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Oral self-injury associated with septicaemia in a case of Cornelia de Lange syndrome
Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology xxx (xxxx) xxx–xxx
Contents lists available at ScienceDirect
Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology journal homepage: www.elsevier.com/locate/jomsmp
Case Report
Oral self-injury associated with septicaemia in a case of Cornelia de Lange syndrome ⁎
Kazuto Okabea,b, , Ryuji Kanekob, Takamasa Kawaib, Fumiya Kanoa, Yuya Ohtac, Hideharu Hibia,c a
Department of Oral and Maxillofacial Surgery, Nagoya University Hospital, Aichi, Japan Department of Oral and Maxillofacial Surgery, Toyota Kosei Hospital, Aichi, Japan c Department of Oral and Maxillofacial Surgery, Nagoya University Graduate School of Medicine, Aichi, Japan b
A R T I C LE I N FO
A B S T R A C T
Keywords: Oral self-injury Septicaemia Cornelia de lange syndrome
Self-injury (SI) can be defined as deliberate harm to one’s own body without conscious suicidal intent. This report describes a case of septicaemia triggered by SI. The patient was a 40 year-old woman, who was diagnosed with Cornelia de Lange syndrome (CdLS). She was hospitalized in a medical long-term care sanatorium and was recently transferred from a familiar sanatorium. She started to bite herself on the mandibular labial alveolar mucosa; this had never been observed. As the self-biting wound gradually increased and the resultant inflammation spread to surrounding tissues, she was referred to our hospital. During the course of treatment, she suffered from septicaemia secondary to aspiration pneumonia. When a case of SI is encountered, clinicians should be aware of the possibility of progression from local infected foci, such as a self-biting wound to septicaemia, and make appropriate interventions at an early stage without underestimating the seriousness of such a condition.
1. Introduction
2. Case report
Self-injury (SI) is defined as deliberate harm to one’s own body without conscious suicidal ideation [1,2]. SI is mainly caused by selfcutting, self-burning, self-scratching, self-biting, head-banging, selfhitting, hair pulling, ingesting scrap, use of foreign bodies that cause wounds, and any action interfering with wound healing [2,3]. From an anatomical perspective, SI lesions are often located in the limbs and in the head and neck regions, particularly in the oral region [4]. SI can be classified as either functional or organic [5]. Functional SI is conscious, in response to certain stimuli, in order to attract attention. In organic SI, the patients are affected by autism, mental retardation, hereditary sensory neuropathies, encephalitis, congenital malformations, congenital infectious diseases, epilepsy, and genetic syndromes, such as Lesch-Nyhan, Tourette, and Cornelia de Lange syndrome (CdLS) [6,7]. In these patients, the injuries are inflicted unconsciously, and in a compulsive manner without specific intent [2]. This report describes a case of CdLS who developed oral mucositis caused by oral SI, and was further complicated by aspiration pneumonia, which progressed to septicaemia.
A 40 year-old woman, who was diagnosed with CdLS, was referred to our hospital for swelling of the right cheek due to dental infection in January 2014. She was hospitalized in a medical long-term care sanatorium but had been recently transferred from a familiar sanatorium due to necessity stemming from family circumstances. She required full assistance to perform activities of daily living (ADL). Three days before visiting our hospital, the sanatorium staff noticed the right cheek swelling. Swelling with redness was present on her right submandibular region (Fig. 1A), in addition to features such as bushy eyebrows meeting at the midline, thin downturned lips, and a short neck. In the oral cavity, the traumatic self-biting wound was on the right buccal mucosa corresponding to the maxillary lateral incisor (Fig. 1B). The 3rd and 4th fingers of the right hand were missing (Fig. 1C), and the 1st and 2nd, and 3rd and 4th toes of the right foot were fused, respectively (Fig. 1D). Computed tomography (CT), performed under intravenous sedation, revealed a low-density area spreading diffusely in the subcutaneous tissue from the buccal region to the submandibular region but did not reveal obvious abscess formation (Fig. 2A). We confirmed that she had
Abbreviations: CdLS, Cornelia de Lange syndrome; SI, self-injury; MRSA, methicillin-resistant staphylococcus aureus ⁎ Corresponding author at: Department of Oral and Maxillofacial Surgery, Nagoya University Hospital, 65 Tsuruma-cho, Showa-ku, Nagoya-shi, Aichi, 466-8550 Japan. E-mail address: [email protected] (K. Okabe). https://doi.org/10.1016/j.ajoms.2019.10.003 Received 27 March 2019; Received in revised form 16 August 2019; Accepted 4 October 2019 2212-5558/ © 2019 Asian AOMS, ASOMP, JSOP, JSOMS, JSOM, and JAMI. Published by Elsevier Ltd All rights reserved.
Please cite this article as: Kazuto Okabe, et al., Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology, https://doi.org/10.1016/j.ajoms.2019.10.003
Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology xxx (xxxx) xxx–xxx
K. Okabe, et al.
Fig. 1. Findings at initial visit. (A) There swelling with redness in the right submandibular region. (B) The traumatic wound was on the buccal mucosa (arrows). (C) 3rd and 4th fingers on the right hand were missing. (D) On the right foot, 1 st and 2nd fingers, and 3rd and 4th toes were fused, respectively.
Fig. 2. Imaging findings at initial visit. (A) A low-density area spreading diffusely in the subcutaneous tissue, from buccal region to submandibular region, but not revealing obvious abscess formation. (B) Only the lateral incisor and first molar remaining in the right maxilla.
only the lateral incisor and first molar in the right maxilla. (Fig. 2B). Her body temperature was 37.8 °C, and a blood examination revealed little inflammatory reaction. The peripheral white blood cell count was 6000/μL and C-reactive protein level was 4.46 mg/dL. We diagnosed infectious oral mucositis triggered by self-biting, and she was admitted to our hospital on the same day. We administered ceftriaxone sodium hydrate 2 g/day and applied an ethylene and vinyl acetate copolymer splint on the maxillary arch on the second day after hospitalization (Fig. 3). Three days after application, she increased the frequency of biting. As she had only a few remaining teeth, the splints were not stable, and the wound worsened. We could have protected the wound by using other types of splints. However, as it would worsen the self-harming behaviour, it was discontinued. On the fifth day, her body temperature was 40.2 °C; pulse rate, 139 beats/min; blood pressure, 117/69 mmHg; respiratory rate, 43 breaths/ min; and oxygen saturation, 83% on room air. A blood examination revealed the following findings: peripheral white blood cell count, 2200/μL; C-reactive protein level, 17.07 mg/dL; and procalcitonin level, 6.83 ng/mL. Additionally, although she was wearing a high-flow
Fig. 3. An ethylene and vinyl acetate copolymer splint.
oxygen mask with a reservoir (10 L/min), her PaO2 was 53 mmHg and PaCO2 was 45 mmHg. She was transferred to the ICU and underwent intubation for ventilation under intravenous sedation. Chest X-ray 2
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Fig. 4. Diagnostic imaging findings at the onset of aspiration pneumonia. (A) Chest X-ray images at day 5 showing multiple patchy shadows in bilateral lower lung fields. (B) CT at day 5 revealing pleural effusion and emphysematous changes in bilateral lower lung fields. (C) Chest X-P at day 15 shows that the patchy shadows in bilateral lower lung fields have disappeared.
images showed multiple patchy shadows in the bilateral lower lung fields (Fig. 4A). CT revealed pleural effusion and emphysematous changes in the bilateral lower lung fields (Fig. 4B). We suspected acute respiratory failure due to severe bacterial pneumonia, especially aspiration pneumonia, and administered meropenem hydrate 3 g/day as an empiric therapy. Because blood pressure decreased to 84/47 mmHg and pulse rate was 110 to 140/min (atrial fibrillation) on the sixth day, high-dose infusion and dopamine 5 μg/kg/min were started. Blood cultures were negative, but methicillin-resistant Staphylococcus aureus (MRSA) and Prevotella intermedia were detected in the sputum culture on the eighth day. We did not change antibiotics as the inflammation and haemodynamics gradually improved, and she recovered from the septic shock on the eleventh day. In addition, the oxygenation also gradually improved, and PaO2 was 111 mmHg at an FIO2 of 0.5 and a PEEP of 5 cmH20. PaO2 was 295 mmHg on the thirteenth day, and she was weaned from the ventilator. Aspiration pneumonia subsided on the fifteenth day (Fig. 4C), but the self-biting wound remained, and she started head-banging. Longterm hospitalization seemed to have become a mental burden to her and worsened her SI habit. Early discharge was desired, but there was concern that SI due to environmental changes would continue. After consulting with her family, we decided to extract the tooth causing mucositis due to trauma to prevent SI and to encourage early discharge. The tooth was extracted under local anaesthesia on the nineteenth day (Fig. 5). There were no complications. After the postoperative period, the oral mucosa healed well and there were no signs of infection. She was discharged from our hospital on the twenty-first day. According to her family, SI continued for a while after discharge, but it gradually declined. In the one-month follow-up examination after discharge, no signs were noted that warranted a readmission.
Fig. 5. Extracted teeth.
defects [8,9]. This syndrome is associated with mutation of the NIPBL gene on chromosome 5 and the SMC1A gene on the inactivated X chromosome, while around 5% of cases have a mutation in the SMC3 gene on chromosome 10 [10–12]. Several behavioural characteristics have been suggested to be associated with CdLS, including aggression, hyperactivity, autism, and operational stress injury [13]. Estimates of the prevalence of SI in CdLS range from 16.6% [14] to 63.6% [15], although no control groups have been used in any study. Most described forms of SI were self-biting, head-banging, and skin-
3. Discussion CdLS is a rare disorder, prenatal in onset, characterized by distinctive facial features and systemic malformation involving cardiac, neurological, musculoskeletal, gastrointestinal, and genitourinary 3
Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology xxx (xxxx) xxx–xxx
K. Okabe, et al.
treatments are occasionally needed, but should take into consideration the patient’s individual background, and the treatment’s influence on the daily life of the patient and his/her family.
picking [15,16]. It has been suggested that SI is biologically determined by an abnormal neuroanatomy leading, in part, to the behavioural phenotype of CdLS [17]. However, biological factors cannot be assumed to be the sole cause of CdLS [19,20]. Moss et al., reported that SI in some individuals with CdLS is associated with environmental stimuli, using broad setting events as a methodological tool in isolation to provide some insight into the role of specific environmental factors in causing SI [20]. Interestingly, her SI had hardly been observed prior to her transfer from a familiar sanatorium. Hospital change is a serious environmental stimulus for her and may have triggered the SI. She had taken to communicating regularly with the staff in her familiar sanatorium and lived in a state of feeling secure. However, she was unable to gain the same level of comfort with her new sanatorium staff. Possibly, mental tension, frustration, and stress manifested as SI. SI is observed in many patients, such as her, who have inadequate communication skills [21]. SI, such as head-banging, continued for a while after discharge, but it gradually reduced. It may be because she became more familiar with her new living environment after discharge. MRSA was found on blood examination, but meropenem, which has no anti-MRSA effect, was effective in treating her aspiration pneumonia. Thus, she was a carrier of MRSA and bacteria were the cause of aspiration pneumonia. The oral cavity is colonized by several hundred types of microorganisms. In healthy individuals, they are usually harmless [22,23]. However, their population is a dynamic system, whereby an increase in the bacterial population of Streptococci, Staphylococci, and infrequently Enterococci, may contribute to the development of septicaemia. Bacteria may invade the bloodstream, leading to bacteraemia with the release of proinflammatory cytokines, compromising the functions of distant organs, or may be aspirated into the respiratory tract [22]. Their role in the development of several systemic conditions such as endocarditis and pneumonia has been well documented [24]. In this case, it may have been that the submandibular swelling exacerbated her dysphagia often associated with CdLS patients, which in turn led to aspiration pneumonia. In past reports, a few cases of inflammation in the submandibular region caused dysphagia [25]. However, inflammation due to SI rarely progresses to the submandibular region [26], and there are no reports of SI accompanied by dysphagia, or aspiration pneumonia, resulting from it. There are no standardized methods to treat oral SI. Pharmacological treatments, including use of antipsychotics, antidepressants, mood stabilizers, and cholinesterase inhibitors, are generally used as the first line of treatment in order to modify the behaviour and muscular activity. However, these may not produce discernible improvement and may cause several severe adverse effects [27]. Recently, the use of acrylic splints has been proposed. Well-made splints are a useful treatment. Various types of splints have been tried and successfully used, especially in patients with congenital syndromes and/or involuntary movements [28]. However, it is difficult for patients to keep wearing splints and their application may create more stress. Furthermore, it also interferes with oral hygiene, and promotes fungal infections and new lesions. Fracture of the splint could have respiratory risks [29]. In some patients, the severity of SI and the failure of other treatment modalities, may require consideration of surgical procedures, such as tooth extraction [30]. In this case, because she ate dexterously with her few remaining teeth, and her family did not consent to tooth extraction, we applied a splint at first. Eventually, tooth extraction was the necessary treatment that lead to the recovery of damaged tissues and the nutritional state of the patient, in addition to the alleviation of her family’s psychological distress. We struggle with treating SI, which is often seen in patients of mentally unstable autism. When treating patients with SI, clinicians should be aware of the possibility of progression from local infected foci, such as self-biting wound to septicaemia. Thus, it becomes necessary to apply the appropriate treatment at an early stage, and not underestimate the severity of the condition. Furthermore, invasive
Ethical approval Informed consent for publication of this case was obtained from the patient’s guardian prior to submission of this paper. Funding The authors did not receive any support in the form of grants. Declaration of Competing Interest The authors declare no conflicts of interest related to this paper. References [1] Favazza AR, De Rosear L, Conterio K. Self-mutilation and eating disorders. Suicide Life Threat Behav 1989;19:352–61. [2] Limeres J, Feijoo JF, Baluja F, Seoane JM, Diniz M, Diz P. Oral self-injury: an update. Dent Traumatol 2013;29:8–14. [3] Klonsky ED. Non-suicidal self-injury in United States adults: prevalence, sociodemographics, topography and functions. Psychol Med 2011;41:1981–6. [4] Lucavechi T, Barberia E, Maroto M, Arenas M. Self-injurious behavior in a patient with mental retardation: review of the literature and a case report. Quintessence Int 2007;38:e393–8. [5] Singh P, Emanuel R, Parry J, Anand PS. Three paediatric patients with oral self-mutilation–a report. Dent Update 2008;35:280–3. [6] Medina AC, Sogbe R, Gomez-Rey AM, Mata M. Factitial oral lesions in an autistic paediatric patient. Int J Paediatr Dent 2003;13:130–7. [7] Compilato D, Corsello G, Campisi G. An unusual traumatic ulceration of the tongue. J Paediatr Child Health 2012;48:1104–5. [8] Jackson L, Kline AD, Barr MA, Koch S. De Lange syndrome: a clinical review of 310 individuals. Am J Med Genet 1993;47:940–6. [9] Ireland M, Donnai D, Burn J. Brachmann-de Lange syndrome. Delineation of the clinical phenotype. Am J Med Genet 1993;47:959–64. [10] Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, et al. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 2004;36:631–5. [11] Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, et al. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet 2007;80:485–94. [12] Nakanishi M, Deardorff MA, Clark D, Levy SE, Krantz I, Pipan M. Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome. Am J Med Genet A 2012;158A:1841–7. [13] Berney TP, Ireland M, Burn J. Behavioural phenotype of Cornelia de Lange syndrome. Arch Dis Child 1999;81:333–6. [14] Beck B. Psycho-social assessment of 36 de Lange patients. J Ment Defic Res 1987;31:251–7. [15] Hyman P, Oliver C, Hall S. Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome. Am J Ment Retard 2002;107:146–54. [16] Oliver C, Sloneem J, Hall S, Arron K. Self-injurious behaviour in Cornelia de Lange syndrome: 1. Prevalence and phenomenology. J Intellect Disabil Res 2009;53:575–89. [17] Nyhan WL. Behavioral phenotypes in organic genetic disease. Presidential address to the Society for Pediatric Research, May 1, 1971. Pediatr Res 1972;6:1–9. [19] Dossetor DR, Coureyer S, Nichol AR. Massage for very severe self-injurious behaviour in a girl with Cornelia de Lange syndrome. Dev Med Child Neurol 1991;33:636–40. [20] Moss J, Oliver C, Hall S, Arron K, Sloneem J, Petty J. The association between environmental events and self-injurious behaviour in Cornelia de Lange syndrome. J Intellect Disabil Res 2005;49:269–77. [21] Bodfish JW, Symons FJ, Parker DE, Lewis MH. Varieties of repetitive behavior in autism: comparisons to mental retardation. J Autism Dev Disord 2000;30:237–43. [22] Aas JA, Paster BJ, Stokes LN, Olsen I, Dewhirst FE. Defining the normal bacterial flora of the oral cavity. J Clin Microbiol 2005;43:5721–32. [23] Dahlén G. Bacterial infections of the oral mucosa. Periodontol 2000;2009(49):13–38. [24] Dietl CA, Mehran RJ. Infection of the post-pneumonectomy space after dental procedures. J Cardiovasc Surg 2004;45:521–2. [25] Flynn TR, Shanti RM, Levi MH, Adamo AK, Kraut RA, Trieger N. Severe odontogenic infections, part 1: prospective report. J Oral Maxillofac Surg 2006;64:1093–103. [26] Tsuji T, Kyotani S. A female case of bilateral buccal cellulitis caused by a bite to the bilateral buccal mucous membrane. Iryo (Jpn J. Natl Med Serv.) 2005;8:436–9. [27] Rainer MK, Masching AJ, Ertl MG, Kraxberger E, Haushofer M. Effect of risperidone on behavioral and psychological symptoms and cognitive function in dementia. J Clin Psychiatry 2001;62:894–900. [28] Shim SH, Ahn GS. Treatment of self-injurious oral trauma in patient with cerebral palsy: a case report. Int J Clin Prev Dent 2017;13:155–8. [29] Cusumano FJ, Penna KJ, Panossian G. Prevention of self-mutilation in patients with Lesch-Nyhan syndrome: review of literature. ASDC J Dent Child 2001;68:175–8. [30] Campolo González A, Vargas Díaz A, Fontboté Riesco D, Hernández Chávez M. Oral selfmutilation in lesch-nyhan syndrome. Case Report. Rev Chil Pediatr 2018;89:86–91.
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Contents lists available at ScienceDirect
Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology journal homepage: www.elsevier.com/locate/jomsmp
Case Report
Oral self-injury associated with septicaemia in a case of Cornelia de Lange syndrome ⁎
Kazuto Okabea,b, , Ryuji Kanekob, Takamasa Kawaib, Fumiya Kanoa, Yuya Ohtac, Hideharu Hibia,c a
Department of Oral and Maxillofacial Surgery, Nagoya University Hospital, Aichi, Japan Department of Oral and Maxillofacial Surgery, Toyota Kosei Hospital, Aichi, Japan c Department of Oral and Maxillofacial Surgery, Nagoya University Graduate School of Medicine, Aichi, Japan b
A R T I C LE I N FO
A B S T R A C T
Keywords: Oral self-injury Septicaemia Cornelia de lange syndrome
Self-injury (SI) can be defined as deliberate harm to one’s own body without conscious suicidal intent. This report describes a case of septicaemia triggered by SI. The patient was a 40 year-old woman, who was diagnosed with Cornelia de Lange syndrome (CdLS). She was hospitalized in a medical long-term care sanatorium and was recently transferred from a familiar sanatorium. She started to bite herself on the mandibular labial alveolar mucosa; this had never been observed. As the self-biting wound gradually increased and the resultant inflammation spread to surrounding tissues, she was referred to our hospital. During the course of treatment, she suffered from septicaemia secondary to aspiration pneumonia. When a case of SI is encountered, clinicians should be aware of the possibility of progression from local infected foci, such as a self-biting wound to septicaemia, and make appropriate interventions at an early stage without underestimating the seriousness of such a condition.
1. Introduction
2. Case report
Self-injury (SI) is defined as deliberate harm to one’s own body without conscious suicidal ideation [1,2]. SI is mainly caused by selfcutting, self-burning, self-scratching, self-biting, head-banging, selfhitting, hair pulling, ingesting scrap, use of foreign bodies that cause wounds, and any action interfering with wound healing [2,3]. From an anatomical perspective, SI lesions are often located in the limbs and in the head and neck regions, particularly in the oral region [4]. SI can be classified as either functional or organic [5]. Functional SI is conscious, in response to certain stimuli, in order to attract attention. In organic SI, the patients are affected by autism, mental retardation, hereditary sensory neuropathies, encephalitis, congenital malformations, congenital infectious diseases, epilepsy, and genetic syndromes, such as Lesch-Nyhan, Tourette, and Cornelia de Lange syndrome (CdLS) [6,7]. In these patients, the injuries are inflicted unconsciously, and in a compulsive manner without specific intent [2]. This report describes a case of CdLS who developed oral mucositis caused by oral SI, and was further complicated by aspiration pneumonia, which progressed to septicaemia.
A 40 year-old woman, who was diagnosed with CdLS, was referred to our hospital for swelling of the right cheek due to dental infection in January 2014. She was hospitalized in a medical long-term care sanatorium but had been recently transferred from a familiar sanatorium due to necessity stemming from family circumstances. She required full assistance to perform activities of daily living (ADL). Three days before visiting our hospital, the sanatorium staff noticed the right cheek swelling. Swelling with redness was present on her right submandibular region (Fig. 1A), in addition to features such as bushy eyebrows meeting at the midline, thin downturned lips, and a short neck. In the oral cavity, the traumatic self-biting wound was on the right buccal mucosa corresponding to the maxillary lateral incisor (Fig. 1B). The 3rd and 4th fingers of the right hand were missing (Fig. 1C), and the 1st and 2nd, and 3rd and 4th toes of the right foot were fused, respectively (Fig. 1D). Computed tomography (CT), performed under intravenous sedation, revealed a low-density area spreading diffusely in the subcutaneous tissue from the buccal region to the submandibular region but did not reveal obvious abscess formation (Fig. 2A). We confirmed that she had
Abbreviations: CdLS, Cornelia de Lange syndrome; SI, self-injury; MRSA, methicillin-resistant staphylococcus aureus ⁎ Corresponding author at: Department of Oral and Maxillofacial Surgery, Nagoya University Hospital, 65 Tsuruma-cho, Showa-ku, Nagoya-shi, Aichi, 466-8550 Japan. E-mail address: [email protected] (K. Okabe). https://doi.org/10.1016/j.ajoms.2019.10.003 Received 27 March 2019; Received in revised form 16 August 2019; Accepted 4 October 2019 2212-5558/ © 2019 Asian AOMS, ASOMP, JSOP, JSOMS, JSOM, and JAMI. Published by Elsevier Ltd All rights reserved.
Please cite this article as: Kazuto Okabe, et al., Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology, https://doi.org/10.1016/j.ajoms.2019.10.003
Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology xxx (xxxx) xxx–xxx
K. Okabe, et al.
Fig. 1. Findings at initial visit. (A) There swelling with redness in the right submandibular region. (B) The traumatic wound was on the buccal mucosa (arrows). (C) 3rd and 4th fingers on the right hand were missing. (D) On the right foot, 1 st and 2nd fingers, and 3rd and 4th toes were fused, respectively.
Fig. 2. Imaging findings at initial visit. (A) A low-density area spreading diffusely in the subcutaneous tissue, from buccal region to submandibular region, but not revealing obvious abscess formation. (B) Only the lateral incisor and first molar remaining in the right maxilla.
only the lateral incisor and first molar in the right maxilla. (Fig. 2B). Her body temperature was 37.8 °C, and a blood examination revealed little inflammatory reaction. The peripheral white blood cell count was 6000/μL and C-reactive protein level was 4.46 mg/dL. We diagnosed infectious oral mucositis triggered by self-biting, and she was admitted to our hospital on the same day. We administered ceftriaxone sodium hydrate 2 g/day and applied an ethylene and vinyl acetate copolymer splint on the maxillary arch on the second day after hospitalization (Fig. 3). Three days after application, she increased the frequency of biting. As she had only a few remaining teeth, the splints were not stable, and the wound worsened. We could have protected the wound by using other types of splints. However, as it would worsen the self-harming behaviour, it was discontinued. On the fifth day, her body temperature was 40.2 °C; pulse rate, 139 beats/min; blood pressure, 117/69 mmHg; respiratory rate, 43 breaths/ min; and oxygen saturation, 83% on room air. A blood examination revealed the following findings: peripheral white blood cell count, 2200/μL; C-reactive protein level, 17.07 mg/dL; and procalcitonin level, 6.83 ng/mL. Additionally, although she was wearing a high-flow
Fig. 3. An ethylene and vinyl acetate copolymer splint.
oxygen mask with a reservoir (10 L/min), her PaO2 was 53 mmHg and PaCO2 was 45 mmHg. She was transferred to the ICU and underwent intubation for ventilation under intravenous sedation. Chest X-ray 2
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Fig. 4. Diagnostic imaging findings at the onset of aspiration pneumonia. (A) Chest X-ray images at day 5 showing multiple patchy shadows in bilateral lower lung fields. (B) CT at day 5 revealing pleural effusion and emphysematous changes in bilateral lower lung fields. (C) Chest X-P at day 15 shows that the patchy shadows in bilateral lower lung fields have disappeared.
images showed multiple patchy shadows in the bilateral lower lung fields (Fig. 4A). CT revealed pleural effusion and emphysematous changes in the bilateral lower lung fields (Fig. 4B). We suspected acute respiratory failure due to severe bacterial pneumonia, especially aspiration pneumonia, and administered meropenem hydrate 3 g/day as an empiric therapy. Because blood pressure decreased to 84/47 mmHg and pulse rate was 110 to 140/min (atrial fibrillation) on the sixth day, high-dose infusion and dopamine 5 μg/kg/min were started. Blood cultures were negative, but methicillin-resistant Staphylococcus aureus (MRSA) and Prevotella intermedia were detected in the sputum culture on the eighth day. We did not change antibiotics as the inflammation and haemodynamics gradually improved, and she recovered from the septic shock on the eleventh day. In addition, the oxygenation also gradually improved, and PaO2 was 111 mmHg at an FIO2 of 0.5 and a PEEP of 5 cmH20. PaO2 was 295 mmHg on the thirteenth day, and she was weaned from the ventilator. Aspiration pneumonia subsided on the fifteenth day (Fig. 4C), but the self-biting wound remained, and she started head-banging. Longterm hospitalization seemed to have become a mental burden to her and worsened her SI habit. Early discharge was desired, but there was concern that SI due to environmental changes would continue. After consulting with her family, we decided to extract the tooth causing mucositis due to trauma to prevent SI and to encourage early discharge. The tooth was extracted under local anaesthesia on the nineteenth day (Fig. 5). There were no complications. After the postoperative period, the oral mucosa healed well and there were no signs of infection. She was discharged from our hospital on the twenty-first day. According to her family, SI continued for a while after discharge, but it gradually declined. In the one-month follow-up examination after discharge, no signs were noted that warranted a readmission.
Fig. 5. Extracted teeth.
defects [8,9]. This syndrome is associated with mutation of the NIPBL gene on chromosome 5 and the SMC1A gene on the inactivated X chromosome, while around 5% of cases have a mutation in the SMC3 gene on chromosome 10 [10–12]. Several behavioural characteristics have been suggested to be associated with CdLS, including aggression, hyperactivity, autism, and operational stress injury [13]. Estimates of the prevalence of SI in CdLS range from 16.6% [14] to 63.6% [15], although no control groups have been used in any study. Most described forms of SI were self-biting, head-banging, and skin-
3. Discussion CdLS is a rare disorder, prenatal in onset, characterized by distinctive facial features and systemic malformation involving cardiac, neurological, musculoskeletal, gastrointestinal, and genitourinary 3
Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology xxx (xxxx) xxx–xxx
K. Okabe, et al.
treatments are occasionally needed, but should take into consideration the patient’s individual background, and the treatment’s influence on the daily life of the patient and his/her family.
picking [15,16]. It has been suggested that SI is biologically determined by an abnormal neuroanatomy leading, in part, to the behavioural phenotype of CdLS [17]. However, biological factors cannot be assumed to be the sole cause of CdLS [19,20]. Moss et al., reported that SI in some individuals with CdLS is associated with environmental stimuli, using broad setting events as a methodological tool in isolation to provide some insight into the role of specific environmental factors in causing SI [20]. Interestingly, her SI had hardly been observed prior to her transfer from a familiar sanatorium. Hospital change is a serious environmental stimulus for her and may have triggered the SI. She had taken to communicating regularly with the staff in her familiar sanatorium and lived in a state of feeling secure. However, she was unable to gain the same level of comfort with her new sanatorium staff. Possibly, mental tension, frustration, and stress manifested as SI. SI is observed in many patients, such as her, who have inadequate communication skills [21]. SI, such as head-banging, continued for a while after discharge, but it gradually reduced. It may be because she became more familiar with her new living environment after discharge. MRSA was found on blood examination, but meropenem, which has no anti-MRSA effect, was effective in treating her aspiration pneumonia. Thus, she was a carrier of MRSA and bacteria were the cause of aspiration pneumonia. The oral cavity is colonized by several hundred types of microorganisms. In healthy individuals, they are usually harmless [22,23]. However, their population is a dynamic system, whereby an increase in the bacterial population of Streptococci, Staphylococci, and infrequently Enterococci, may contribute to the development of septicaemia. Bacteria may invade the bloodstream, leading to bacteraemia with the release of proinflammatory cytokines, compromising the functions of distant organs, or may be aspirated into the respiratory tract [22]. Their role in the development of several systemic conditions such as endocarditis and pneumonia has been well documented [24]. In this case, it may have been that the submandibular swelling exacerbated her dysphagia often associated with CdLS patients, which in turn led to aspiration pneumonia. In past reports, a few cases of inflammation in the submandibular region caused dysphagia [25]. However, inflammation due to SI rarely progresses to the submandibular region [26], and there are no reports of SI accompanied by dysphagia, or aspiration pneumonia, resulting from it. There are no standardized methods to treat oral SI. Pharmacological treatments, including use of antipsychotics, antidepressants, mood stabilizers, and cholinesterase inhibitors, are generally used as the first line of treatment in order to modify the behaviour and muscular activity. However, these may not produce discernible improvement and may cause several severe adverse effects [27]. Recently, the use of acrylic splints has been proposed. Well-made splints are a useful treatment. Various types of splints have been tried and successfully used, especially in patients with congenital syndromes and/or involuntary movements [28]. However, it is difficult for patients to keep wearing splints and their application may create more stress. Furthermore, it also interferes with oral hygiene, and promotes fungal infections and new lesions. Fracture of the splint could have respiratory risks [29]. In some patients, the severity of SI and the failure of other treatment modalities, may require consideration of surgical procedures, such as tooth extraction [30]. In this case, because she ate dexterously with her few remaining teeth, and her family did not consent to tooth extraction, we applied a splint at first. Eventually, tooth extraction was the necessary treatment that lead to the recovery of damaged tissues and the nutritional state of the patient, in addition to the alleviation of her family’s psychological distress. We struggle with treating SI, which is often seen in patients of mentally unstable autism. When treating patients with SI, clinicians should be aware of the possibility of progression from local infected foci, such as self-biting wound to septicaemia. Thus, it becomes necessary to apply the appropriate treatment at an early stage, and not underestimate the severity of the condition. Furthermore, invasive
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