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Apnea and macrocephaly-cutis marmorata telangiectatica congenita
Brain & Development 31 (2009) 706–709 www.elsevier.com/locate/braindev
Case report
Apnea and macrocephaly-cutis marmorata telangiectatica congenita Brodus Franklin, Jaime Gasco *, Leonardo Rangel-Castilla, Haring J.W. Nauta University of Texas Medical Branch, Division of Neurosurgery, 301 University Boulevard, John Sealy Annex, Galveston, TX 77555, USA Received 8 July 2008; received in revised form 17 September 2008; accepted 19 October 2008
Abstract The authors report a case of an infant girl with macrocephaly-cutis marmorata telangiectatica congenita (Macrocephaly-CMTC). This patient presented with developmental delay, mild subcostal retractions, and occasional apneic spells. An MRI demonstrated mild to moderate lateral ventricle hydrocephalus, left hemi-megalencephaly, and left cerebellar tonsillar herniation with full occlusion of the cisterna magna. Her foramen magnum was narrowed, measuring 17.5 mm in transverse diameter. This value was significantly below the 50th percentile for age, which is 23.5 mm. Together, these findings were suggestive of cervicomedullary cord compression, concerning for sudden death. The patient underwent posterior fossa decompression by suboccipital craniectomy and cervical laminectomy. Initially due to hypertrophy and paralysis of the left true and false vocal cords, endotracheal intubation was not achieved, requiring tracheostomy tube placement. To our knowledge this is the first report of apnea in a patient diagnosed with M-CMTC, likely due to cervicomedullary cord compression and perhaps exacerbated by unilateral laryngeal hypertrophy. M-CMTC is a newly-described hemi-hypertrophy syndrome affecting the neurodevelopment of affected children. The authors emphasize airway obstruction secondary to unilateral hypertrophy of the vocal cords in addition to brainstem compromise as a consideration for the etiology of apnea in M-CMTC patients presenting with signs and symptoms of cervicomedullary cord compression. Ó 2008 Elsevier B.V. All rights reserved. Keywords: Cerebellar tonsillar herniation; Cervicomedullary compression; Airway obstruction; Macrocephaly; Cutis marmorata
1. Introduction A genetic congenital syndrome entitled macrocephalycutis marmorata telangiectatica congenita (M-CMTC) was first described in 1997 by Moore et al. and ClaytonSmith et al. who described children with growth abnormalities of the brain, facial and somatic hemi-hypertrophy, vascular abnormalities, and connective tissue defects resulting in hypotonia [1,2]. This condition is distinguished from cutis marmorata telengiectatica congenita (CMTC), a congenital vascular malformation of the skin that is characterized by cutis marmorata, a pattern of reticulated, marble-like cherry*
Corresponding author. Tel.: +1 409 772 1550; fax: +1 409 772 1742. E-mail address: [email protected] (J. Gasco). 0387-7604/$ - see front matter Ó 2008 Elsevier B.V. All rights reserved. doi:10.1016/j.braindev.2008.10.006
red macules induced by venous and capillary hyperplasia. M-CMTC is increasingly recognized as a distinct clinical entity apart from CMTC. These two entities differ most with prognosis. The prognosis of CMTC is generally benign whereas the prognosis of M-CMTC may potentially be poor with a considerable number of cases ending in sudden death [1–4]. The macrocephaly component of M-CMTC is associated with MRI findings of obstructive and non-obstructive hydrocephalus, hemi-megalencephaly, abnormal white matter signal intensity, CNS dysgenesis, and occasional cerebellar tonsillar herniation (CTH) which typically presents as developmental delay and mental retardation. The diagnosis of M-CMTC usually requires the combination of congenital hemi-megalencephaly and CMTC plus any four of the aforementioned signs and symptoms (Table 1) [1,5,6].
B. Franklin et al. / Brain & Development 31 (2009) 706–709 Table 1 Diagnostic criteria of M-CMTC.
2. Case report
A. Macrocephaly/hemi-megalencephaly B. CTMC (Vascular malformation causing skin motling), and C. At least four of the following signs or symptoms: 1. Unilateral somatic overgrowth with prenatal onset 2. Dysmorphic facial features 3. Midline facial capillary malformations 4. Nevus flammeus (port wine stain)/hyperpigmented patches 5. Hypotonia 6. Joint laxity 7. Digital syndactyly or polydactyly 8. Hydrocephalus 9. Mental retardation/developmental delay 10. Bifid cavum septum pellucidum/vergae
2.1. History and physical examination
Abbreviations: M-CMTC, Macrocephaly-Cutis Marmorata Telangiectatica Congenita; CMTC, Cutis Marmorata Telangiectatica Congenita.
We report a case of respiratory compromise in a young infant child with M-CMTC after the detection of two potentially etiological causes: first cervicomedullary compression and later obstructive laryngeal hemi-hypertrophy. M-CMTC is a unique and newlydescribed somatic overgrowth syndrome which progressively affects the neurodevelopment of affected children. This case presentation offers new insight into the etiology and diagnosis of apnea in M-CMTC patients with CTH.
707
This 9 month old female was born 32 weeks premature to a young African-American mother. After her 9 month outpatient appointment, the patient received an MRI for further investigation of progressively increasing frontal-occipital circumference (FOC), ultrasonography suggestive for hydrocephalus, delayed motor developmental milestones, and labored breathing with subcostal retractions and rare apneic spells. This MRI demonstrated left cerebral hypertrophy with mild to moderate hydrocephalus (Fig. 1B), cavum septum pellucidum and vergae, an undersized posterior fossa, and hypertrophy of the left cerebellum with CTH extending caudally to the C4 vertebrae (Fig. 1E) and full occlusion of the cisterna magna. The foramen magnum was narrowed, measuring approximately 17.5 mm in transverse diameter. Figs. 1A–F show progressive hemi-megalencephaly mildly present at 1 month of age with marked progression and development of severe foramen magnum stenosis concerning for impending sudden death by age 9 months. Upon examination, her anterior fontanelle was soft and flat, and her FOC was enlarged, measuring approximately 46.5 cm which corresponds to the 97th percentile for age and gender. These findings,
Fig. 1. (A) Axial T2WI at age 1 month and 20 days showing evidence of hypertrophy of the left cerebral hemisphere. Note that at this time, the ventricles are of normal-size with no evidence of hydrocephalus. A cavum septum pellucidum is also seen (identified by arrow). (B) Sagital T1WI at age 1 month and 20 days showing adequate circulation of CSF and no sign of cerebellar tonsillar ectopia. (C) Preoperative axial T2WI at age 9 months and 9 days showing similar left cerebral hemi-megalencephaly with significant hydrocephalus and dilatation of the lateral ventricles. (D) Preoperative sagital T2WI at age 9 months and 9 days showing cerebellar tonsillar herniation of approximately 26.6 mm (the level of the C4 vertebral body) caudally into the upper cervical canal with mild extrinsic compression of the brainstem. CSF spaces within the posterior fossa and the skull base are effaced. There is a paucity of CSF spaces around the craniovertebral junction. The arrow identifies the most caudal end of cerebellar ectopia. (E) Postoperative axial T2WI at age 9 months and 26 days showing slight reduction in lateral ventriculomegaly and consistent left cerebral hemimegalencephaly. (F) Postoperative sagital T2WI at age 9 months and 26 days showing freedom posterior to the cerebellum and adequate CSF flow to the upper cervical canal. The arrow identifies the most caudal end of cerebellar ectopia.
708
B. Franklin et al. / Brain & Development 31 (2009) 706–709
together with a diffuse vascular lacy rash, diffuse hypopigmented and hyperpigmented patches, left foot syndactyly, ‘‘sandal toe” gap deformity, and left facial and somatic hemi-hypertrophy, were consistent with a diagnosis of M-CMTC. The patient was subsequently admitted to the pediatric intensive care unit (PICU) under neurological observation and scheduled for elective suboccipital craniectomy and cervical laminectomy with duraplasty. 2.2. First operative attempt The patient was present for scheduled decompressive surgery. Although a passageway to the larynx was visible, an endotracheal tube (ETT) could not be passed by an experienced pediatric anesthesiologist using a fibre-optic bronchoscope (FOB). Visualization of the obstruction demonstrated hypertrophy and paralysis to the left true and false vocal cords (Fig. 2). The child experienced brief seconds of desaturation and bradycardia but continued to demonstrate a preserved ability to maintain adequate oxygen saturation with oral ventilation alone. Tracheostomy tube placement was deemed necessary for any future attempt at decompressive surgery. 2.3. Second operative attempt and final course After adjustment to her tracheostomy tube, the patient underwent posterior fossa decompression by suboccipital craniectomy with extension farther left plus a cervical laminectomy from C1 to C4, determined by the descent of her left cerebellar tonsil to the level of the C4 vertebrae. Postoperatively, the patient remained very alert and active with a consistent FOC, soft anterior fontanelles,
Fig. 2. Photograph of laryngeal anatomy from superior view obtained using fibre-optic bronchoscope (FOB) after failed endotracheal tube (ETT) placement during first operative attempt. This image shows edema, hypertrophy, and paralysis of both the left vestibular fold (also called ‘‘false” vocal cord, identified by an arrow) and left vocal fold (also called ‘‘true” vocal cord, identified by an arrowhead).
and stable respirations. A postoperative gadoliniumenhanced MRI demonstrated freedom posterior to the cerebellum and CSF flow to the canal (Fig. 1F). 3. Discussion and review The occasional CTH of M-CMTC presents similar to that of Chiari malformation type I (CM-I) [7]. Generally, the difference lies in neurodevelopment. M-CMTC displays progressive cerebellar overgrowth within a normal-sized posterior cranial fossa while CM-I displays a congenitally enlarged cerebellum within an undersized posterior cranial fossa. The pressure derangement caused by cerebellar overgrowth observed with this case was further exacerbated by a narrowed foramen magnum as compared to age-related norms. The transverse diameter of our patient’s foramen magnum, approximately 17.5 mm, falls below the mean for age which is 23.5 mm, and this value also falls below one standard deviation (SD) under the mean for age which is 22.5 mm. Evidence of neurological dysfunction was observed at an average transverse diameter of 17 mm in achondroplastic patients of similar age and sort of narrowing [8]. Posterior decompression has been consistently performed in M-CMTC patients with CTH in attempts to amend symptoms caused by foramen magnum stenosis and hydrocephalus [6,7]. As described in prior reports, the non-obstructive hydrocephalus and secondary ventriculomegaly commonly encountered in M-CMTC has not been amenable by ventriculoperitoneal (VP) shunt placement [6]. Shunt placement was not attempted in our patient, partly because it has not been proven effective and additionally because our patient’s fontanelles remained consistently soft, without bulging or tension, suggesting normal intracranial pressure (ICP). The etiology of hydrocephalus in M-CMTC continues to be a controversial issue. As in the cases of the M-CMTC patients reported by Conway et al. [7], our patient also developed concurrent hydrocephalus with CTH, and in the absence of Luschka-Magendie foraminal obstruction and resolution by decompression, we agree that this finding may signify an independent syndromic entity that remains to be elucidated. Rekate [6] proposed that early venous outflow obstruction in the perinatal period may cause altered CSF hydrodynamics that subsequently cause the hydrocephalus and associated macrocephaly observed with M-CMTC. Most importantly, however, the present case emphasizes the consideration of airway obstruction by unilateral edema, hypertrophy, and paralysis of true and false vocal cords as a potential cause of apnea in M-CMTC patients with suspected cervicomedullary compression. In our patient, a lip of cerebellum was found to abnormally extend caudally to the C4 vertebrae. This level of extension was approximately 26.6 mm below the fora-
B. Franklin et al. / Brain & Development 31 (2009) 706–709
men magnum (Fig. 1D), clearly pathologic (normal 65 mm), and potentially amenable by decompression [9]. The most feared outcome for a patient with suspected cervicomedullary compression is compression of vital brainstem centers for respiration and cardiac rhythm control resulting in sudden death. Prior reports admonish the development of progressive and gliotic unilateral cerebellar overgrowth with recurrent hindbrain overcrowding despite a standardsized decompression [7]. This development, together with a general unresponsiveness to VP shunting procedures aimed at ameliorating hydrocephalus and preventing herniation, led us to believe that generous decompressive surgery may be the inevitable treatment for a majority of M-CMTC patients with hindbrain overcrowding and CTH. 4. Conclusion Close follow-up with periodic MRI scans and cautious surveillance for signs and symptoms suggestive of both brainstem compression and elevated ICP is recommended. Because of the difficulties encountered in this case, the authors also propose that all M-CMTC patients receive laryngoscopy by an experienced anesthesiologist with significant training in fibre-optic endotracheal intubation prior to decompressive surgery in anticipation of any structural anomalies or paralysis of the vocal cords. Additionally, laryngeal obstruction of a unilateral nature should be considered as a cause of apnea in M-CMTC, especially in the presence of cervicomedullary compression which alone may cause vocal cord paralysis [10]. Finally when necessary, we also recommend the presence of an otolaryngologist at induction for the formation of an emergency tracheal
709
airway to prevent respiratory arrest or prolonged distress in the event of obstruction. References [1] Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD, et al. Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. Am J Med Genet 1997;70:67–73. [2] Clayton-Smith J, Kerr B, Brunner H, Tranebjaerg L, Magee A, Hennekam RC, et al. Macrocephaly with cutis marmorata, haemangioma and syndactyly – a distinctive overgrowth syndrome. Clin Dysmorphol 1997;6:291–302. [3] Yano S, Watanabe Y. Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome. Am J Med Genet 2001;102:149–52. [4] Akcar N, Adapinar B, Dinleyici C, Durak B, Ozkan IR. A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features. Ann Genet 2004;47: 261–5. [5] Carcao M, Blaser SI, Grant RM, Weksberg R, Siegel-Bartelt J. MRI findings in macrocephaly-cutis marmorata telangiectatica congenita. Am J Med Genet 1998;76:165–7. [6] Rekate HL. Macrocephaly-cutis marmorata telangiectatica congenita. J Neurosurg 2007;106:292–3, discussion 293–295. [7] Conway RL, Danielpour M, Graham Jr JM. Surgical management of cerebellar tonsillar herniation in three patients with macrocephaly-cutis marmorata telangiectatica congenita. Report of three cases. J Neurosurg 2007;106:296–301. [8] Hecht JT, Nelson FW, Butler IJ, Horton WA, Scott Jr CI, Wassman ER, et al. Computerized tomography of the foramen magnum: achondroplastic values compared to normal standards. Am J med Genet 1985;20:355–60. [9] Aboulezz AO, Sartor K, Geyer CA, Gado MH. Position of cerebellar tonsils in the normal population and in patients with Chiari malformation: a quantitative approach with MR imaging. J Comput Assist Tomogr 1985;9:1033–6. [10] Thompson Link D, McCaffrey TV, Krauss WE, Link MJ, Ferguson MT. Cervicomedullary compression: an unrecognized cause of vocal cord paralysis in rheumatoid arthritis. Ann Otol Rhinol Laryngol 1998;107:462–71.
Case report
Apnea and macrocephaly-cutis marmorata telangiectatica congenita Brodus Franklin, Jaime Gasco *, Leonardo Rangel-Castilla, Haring J.W. Nauta University of Texas Medical Branch, Division of Neurosurgery, 301 University Boulevard, John Sealy Annex, Galveston, TX 77555, USA Received 8 July 2008; received in revised form 17 September 2008; accepted 19 October 2008
Abstract The authors report a case of an infant girl with macrocephaly-cutis marmorata telangiectatica congenita (Macrocephaly-CMTC). This patient presented with developmental delay, mild subcostal retractions, and occasional apneic spells. An MRI demonstrated mild to moderate lateral ventricle hydrocephalus, left hemi-megalencephaly, and left cerebellar tonsillar herniation with full occlusion of the cisterna magna. Her foramen magnum was narrowed, measuring 17.5 mm in transverse diameter. This value was significantly below the 50th percentile for age, which is 23.5 mm. Together, these findings were suggestive of cervicomedullary cord compression, concerning for sudden death. The patient underwent posterior fossa decompression by suboccipital craniectomy and cervical laminectomy. Initially due to hypertrophy and paralysis of the left true and false vocal cords, endotracheal intubation was not achieved, requiring tracheostomy tube placement. To our knowledge this is the first report of apnea in a patient diagnosed with M-CMTC, likely due to cervicomedullary cord compression and perhaps exacerbated by unilateral laryngeal hypertrophy. M-CMTC is a newly-described hemi-hypertrophy syndrome affecting the neurodevelopment of affected children. The authors emphasize airway obstruction secondary to unilateral hypertrophy of the vocal cords in addition to brainstem compromise as a consideration for the etiology of apnea in M-CMTC patients presenting with signs and symptoms of cervicomedullary cord compression. Ó 2008 Elsevier B.V. All rights reserved. Keywords: Cerebellar tonsillar herniation; Cervicomedullary compression; Airway obstruction; Macrocephaly; Cutis marmorata
1. Introduction A genetic congenital syndrome entitled macrocephalycutis marmorata telangiectatica congenita (M-CMTC) was first described in 1997 by Moore et al. and ClaytonSmith et al. who described children with growth abnormalities of the brain, facial and somatic hemi-hypertrophy, vascular abnormalities, and connective tissue defects resulting in hypotonia [1,2]. This condition is distinguished from cutis marmorata telengiectatica congenita (CMTC), a congenital vascular malformation of the skin that is characterized by cutis marmorata, a pattern of reticulated, marble-like cherry*
Corresponding author. Tel.: +1 409 772 1550; fax: +1 409 772 1742. E-mail address: [email protected] (J. Gasco). 0387-7604/$ - see front matter Ó 2008 Elsevier B.V. All rights reserved. doi:10.1016/j.braindev.2008.10.006
red macules induced by venous and capillary hyperplasia. M-CMTC is increasingly recognized as a distinct clinical entity apart from CMTC. These two entities differ most with prognosis. The prognosis of CMTC is generally benign whereas the prognosis of M-CMTC may potentially be poor with a considerable number of cases ending in sudden death [1–4]. The macrocephaly component of M-CMTC is associated with MRI findings of obstructive and non-obstructive hydrocephalus, hemi-megalencephaly, abnormal white matter signal intensity, CNS dysgenesis, and occasional cerebellar tonsillar herniation (CTH) which typically presents as developmental delay and mental retardation. The diagnosis of M-CMTC usually requires the combination of congenital hemi-megalencephaly and CMTC plus any four of the aforementioned signs and symptoms (Table 1) [1,5,6].
B. Franklin et al. / Brain & Development 31 (2009) 706–709 Table 1 Diagnostic criteria of M-CMTC.
2. Case report
A. Macrocephaly/hemi-megalencephaly B. CTMC (Vascular malformation causing skin motling), and C. At least four of the following signs or symptoms: 1. Unilateral somatic overgrowth with prenatal onset 2. Dysmorphic facial features 3. Midline facial capillary malformations 4. Nevus flammeus (port wine stain)/hyperpigmented patches 5. Hypotonia 6. Joint laxity 7. Digital syndactyly or polydactyly 8. Hydrocephalus 9. Mental retardation/developmental delay 10. Bifid cavum septum pellucidum/vergae
2.1. History and physical examination
Abbreviations: M-CMTC, Macrocephaly-Cutis Marmorata Telangiectatica Congenita; CMTC, Cutis Marmorata Telangiectatica Congenita.
We report a case of respiratory compromise in a young infant child with M-CMTC after the detection of two potentially etiological causes: first cervicomedullary compression and later obstructive laryngeal hemi-hypertrophy. M-CMTC is a unique and newlydescribed somatic overgrowth syndrome which progressively affects the neurodevelopment of affected children. This case presentation offers new insight into the etiology and diagnosis of apnea in M-CMTC patients with CTH.
707
This 9 month old female was born 32 weeks premature to a young African-American mother. After her 9 month outpatient appointment, the patient received an MRI for further investigation of progressively increasing frontal-occipital circumference (FOC), ultrasonography suggestive for hydrocephalus, delayed motor developmental milestones, and labored breathing with subcostal retractions and rare apneic spells. This MRI demonstrated left cerebral hypertrophy with mild to moderate hydrocephalus (Fig. 1B), cavum septum pellucidum and vergae, an undersized posterior fossa, and hypertrophy of the left cerebellum with CTH extending caudally to the C4 vertebrae (Fig. 1E) and full occlusion of the cisterna magna. The foramen magnum was narrowed, measuring approximately 17.5 mm in transverse diameter. Figs. 1A–F show progressive hemi-megalencephaly mildly present at 1 month of age with marked progression and development of severe foramen magnum stenosis concerning for impending sudden death by age 9 months. Upon examination, her anterior fontanelle was soft and flat, and her FOC was enlarged, measuring approximately 46.5 cm which corresponds to the 97th percentile for age and gender. These findings,
Fig. 1. (A) Axial T2WI at age 1 month and 20 days showing evidence of hypertrophy of the left cerebral hemisphere. Note that at this time, the ventricles are of normal-size with no evidence of hydrocephalus. A cavum septum pellucidum is also seen (identified by arrow). (B) Sagital T1WI at age 1 month and 20 days showing adequate circulation of CSF and no sign of cerebellar tonsillar ectopia. (C) Preoperative axial T2WI at age 9 months and 9 days showing similar left cerebral hemi-megalencephaly with significant hydrocephalus and dilatation of the lateral ventricles. (D) Preoperative sagital T2WI at age 9 months and 9 days showing cerebellar tonsillar herniation of approximately 26.6 mm (the level of the C4 vertebral body) caudally into the upper cervical canal with mild extrinsic compression of the brainstem. CSF spaces within the posterior fossa and the skull base are effaced. There is a paucity of CSF spaces around the craniovertebral junction. The arrow identifies the most caudal end of cerebellar ectopia. (E) Postoperative axial T2WI at age 9 months and 26 days showing slight reduction in lateral ventriculomegaly and consistent left cerebral hemimegalencephaly. (F) Postoperative sagital T2WI at age 9 months and 26 days showing freedom posterior to the cerebellum and adequate CSF flow to the upper cervical canal. The arrow identifies the most caudal end of cerebellar ectopia.
708
B. Franklin et al. / Brain & Development 31 (2009) 706–709
together with a diffuse vascular lacy rash, diffuse hypopigmented and hyperpigmented patches, left foot syndactyly, ‘‘sandal toe” gap deformity, and left facial and somatic hemi-hypertrophy, were consistent with a diagnosis of M-CMTC. The patient was subsequently admitted to the pediatric intensive care unit (PICU) under neurological observation and scheduled for elective suboccipital craniectomy and cervical laminectomy with duraplasty. 2.2. First operative attempt The patient was present for scheduled decompressive surgery. Although a passageway to the larynx was visible, an endotracheal tube (ETT) could not be passed by an experienced pediatric anesthesiologist using a fibre-optic bronchoscope (FOB). Visualization of the obstruction demonstrated hypertrophy and paralysis to the left true and false vocal cords (Fig. 2). The child experienced brief seconds of desaturation and bradycardia but continued to demonstrate a preserved ability to maintain adequate oxygen saturation with oral ventilation alone. Tracheostomy tube placement was deemed necessary for any future attempt at decompressive surgery. 2.3. Second operative attempt and final course After adjustment to her tracheostomy tube, the patient underwent posterior fossa decompression by suboccipital craniectomy with extension farther left plus a cervical laminectomy from C1 to C4, determined by the descent of her left cerebellar tonsil to the level of the C4 vertebrae. Postoperatively, the patient remained very alert and active with a consistent FOC, soft anterior fontanelles,
Fig. 2. Photograph of laryngeal anatomy from superior view obtained using fibre-optic bronchoscope (FOB) after failed endotracheal tube (ETT) placement during first operative attempt. This image shows edema, hypertrophy, and paralysis of both the left vestibular fold (also called ‘‘false” vocal cord, identified by an arrow) and left vocal fold (also called ‘‘true” vocal cord, identified by an arrowhead).
and stable respirations. A postoperative gadoliniumenhanced MRI demonstrated freedom posterior to the cerebellum and CSF flow to the canal (Fig. 1F). 3. Discussion and review The occasional CTH of M-CMTC presents similar to that of Chiari malformation type I (CM-I) [7]. Generally, the difference lies in neurodevelopment. M-CMTC displays progressive cerebellar overgrowth within a normal-sized posterior cranial fossa while CM-I displays a congenitally enlarged cerebellum within an undersized posterior cranial fossa. The pressure derangement caused by cerebellar overgrowth observed with this case was further exacerbated by a narrowed foramen magnum as compared to age-related norms. The transverse diameter of our patient’s foramen magnum, approximately 17.5 mm, falls below the mean for age which is 23.5 mm, and this value also falls below one standard deviation (SD) under the mean for age which is 22.5 mm. Evidence of neurological dysfunction was observed at an average transverse diameter of 17 mm in achondroplastic patients of similar age and sort of narrowing [8]. Posterior decompression has been consistently performed in M-CMTC patients with CTH in attempts to amend symptoms caused by foramen magnum stenosis and hydrocephalus [6,7]. As described in prior reports, the non-obstructive hydrocephalus and secondary ventriculomegaly commonly encountered in M-CMTC has not been amenable by ventriculoperitoneal (VP) shunt placement [6]. Shunt placement was not attempted in our patient, partly because it has not been proven effective and additionally because our patient’s fontanelles remained consistently soft, without bulging or tension, suggesting normal intracranial pressure (ICP). The etiology of hydrocephalus in M-CMTC continues to be a controversial issue. As in the cases of the M-CMTC patients reported by Conway et al. [7], our patient also developed concurrent hydrocephalus with CTH, and in the absence of Luschka-Magendie foraminal obstruction and resolution by decompression, we agree that this finding may signify an independent syndromic entity that remains to be elucidated. Rekate [6] proposed that early venous outflow obstruction in the perinatal period may cause altered CSF hydrodynamics that subsequently cause the hydrocephalus and associated macrocephaly observed with M-CMTC. Most importantly, however, the present case emphasizes the consideration of airway obstruction by unilateral edema, hypertrophy, and paralysis of true and false vocal cords as a potential cause of apnea in M-CMTC patients with suspected cervicomedullary compression. In our patient, a lip of cerebellum was found to abnormally extend caudally to the C4 vertebrae. This level of extension was approximately 26.6 mm below the fora-
B. Franklin et al. / Brain & Development 31 (2009) 706–709
men magnum (Fig. 1D), clearly pathologic (normal 65 mm), and potentially amenable by decompression [9]. The most feared outcome for a patient with suspected cervicomedullary compression is compression of vital brainstem centers for respiration and cardiac rhythm control resulting in sudden death. Prior reports admonish the development of progressive and gliotic unilateral cerebellar overgrowth with recurrent hindbrain overcrowding despite a standardsized decompression [7]. This development, together with a general unresponsiveness to VP shunting procedures aimed at ameliorating hydrocephalus and preventing herniation, led us to believe that generous decompressive surgery may be the inevitable treatment for a majority of M-CMTC patients with hindbrain overcrowding and CTH. 4. Conclusion Close follow-up with periodic MRI scans and cautious surveillance for signs and symptoms suggestive of both brainstem compression and elevated ICP is recommended. Because of the difficulties encountered in this case, the authors also propose that all M-CMTC patients receive laryngoscopy by an experienced anesthesiologist with significant training in fibre-optic endotracheal intubation prior to decompressive surgery in anticipation of any structural anomalies or paralysis of the vocal cords. Additionally, laryngeal obstruction of a unilateral nature should be considered as a cause of apnea in M-CMTC, especially in the presence of cervicomedullary compression which alone may cause vocal cord paralysis [10]. Finally when necessary, we also recommend the presence of an otolaryngologist at induction for the formation of an emergency tracheal
709
airway to prevent respiratory arrest or prolonged distress in the event of obstruction. References [1] Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD, et al. Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. Am J Med Genet 1997;70:67–73. [2] Clayton-Smith J, Kerr B, Brunner H, Tranebjaerg L, Magee A, Hennekam RC, et al. Macrocephaly with cutis marmorata, haemangioma and syndactyly – a distinctive overgrowth syndrome. Clin Dysmorphol 1997;6:291–302. [3] Yano S, Watanabe Y. Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome. Am J Med Genet 2001;102:149–52. [4] Akcar N, Adapinar B, Dinleyici C, Durak B, Ozkan IR. A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features. Ann Genet 2004;47: 261–5. [5] Carcao M, Blaser SI, Grant RM, Weksberg R, Siegel-Bartelt J. MRI findings in macrocephaly-cutis marmorata telangiectatica congenita. Am J Med Genet 1998;76:165–7. [6] Rekate HL. Macrocephaly-cutis marmorata telangiectatica congenita. J Neurosurg 2007;106:292–3, discussion 293–295. [7] Conway RL, Danielpour M, Graham Jr JM. Surgical management of cerebellar tonsillar herniation in three patients with macrocephaly-cutis marmorata telangiectatica congenita. Report of three cases. J Neurosurg 2007;106:296–301. [8] Hecht JT, Nelson FW, Butler IJ, Horton WA, Scott Jr CI, Wassman ER, et al. Computerized tomography of the foramen magnum: achondroplastic values compared to normal standards. Am J med Genet 1985;20:355–60. [9] Aboulezz AO, Sartor K, Geyer CA, Gado MH. Position of cerebellar tonsils in the normal population and in patients with Chiari malformation: a quantitative approach with MR imaging. J Comput Assist Tomogr 1985;9:1033–6. [10] Thompson Link D, McCaffrey TV, Krauss WE, Link MJ, Ferguson MT. Cervicomedullary compression: an unrecognized cause of vocal cord paralysis in rheumatoid arthritis. Ann Otol Rhinol Laryngol 1998;107:462–71.