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DMP014 A dysmorphic child with acrocephaly, seizures, long fingers, and cherry red spots: a new association
Abstracts: Poster Presentations, the Seventh European Paediatric Neurology Society (EPNS) Congress DMP09 “Double cortex” syndrome in children T. Raluca1 *, D. Teleanu2 , F. Buruian1 , A. Lazar1 , D. Plesca1 , D. Dragomir1 . 1 Department of Pediatric Neurology “Dr.V. Gomoiu” Children s Hospital, 2 Department of Neurosurgery, Emergency University Hospital, Bucharest, Romania Introduction: Subcortical laminar heterotopia or “double cortex” is a cerebral malformation with a defect in neuronal migration. Clinical manifestations are epilepsy and mental retardation. This disorder mainly affects females. The XLIS gene is implicated and it is localized on the Xq22.3−23 chromosome. Methods: We present 2 rare cases diagnosed with subcortical laminar heterotopia. Results: All patients had epileptic seizures, one patient had mental retadation and MRI revealed in all patients a “double cortex” aspect. Single Photon Emission Computed Tomography (SPECT) was performed in one patient. In the past, such cases were categorized as cryptogenic epilepsy. Neuronal migration disorders associated with epilepsy can be recognized by modern techniques, particularly MRI. DMP010 Facial hemangioma and hemispheric migration disorder presentation of five patients I. Pascual-Castroviejo4 *, S.-I. Pascual-Pascual1 , J.-C. LopezGutierrez2 , R. Velazquez-Fragua3 , J. Viano ˜ 4 . 1 Pediatric Neurology Service, 2 Pediatric Plastic Surgery, 3 Pediatric Neurology Service, University Hospital La Paz, 4 Imaging Unit, Nuestra Senora del ˜ Rosario Clinic, Madrid, Spain Background: The purpose of this study was to show the close association of these cutaneous anomalies with cortical dysplasias and intracranial vascular abnormalities. Methods: Five patients, all women, with cutaneous vascular abnormalities, 4 with hemangioma and 1 with vascular malformation, who were studied with magnetic resonance (MR) and MR angiography (MRA). Results: All 5 patients showed cortical dysplasia. The cutaneous lesions involved the left frontal region, ipsilateral to the cerebral hemisphere with cortical dysplasia, in all patients. Hemispheric hypoplasia was associated with the cortical dysplasia in all five patients. Arterial abnormalities were found in all patients, consisting of aplasia of the ipsilateral internal carotid in 2; persistence of the trigeminal artery in 2, persistence of both proatlantal arteries and double kinking in the internal carotid artery in 1, origin of both anterior cerebral arteries from the same internal carotid in all 5 patients, one of whom also showed an intracavernous anterior cerebral artery origin of the same side of the hemispheric hypoplasia and polymicrogyria. Conclusions: The presence of many congenital vascular abnormalities in this series suggests that facial hemangioma and vascular malformations may be in close relationship with cortical and vascular abnormalities. unclear. A genetic origin is suggested. DMP011 Congenital facial palsy: radiological and electrophysiological evaluation of two cases H. Ozyurek1 , H. Turker2 , M. Ceyhan3 , O. Kayacik1 , O.F. Aydin1 . Ondokuz Mayis University Department of Pediatrics, Pediatric Neurology Unit, 2 Ondokuz Mayis University Department of Neurology, 3 Ondokuz Mayis University Department of Radiology, Turkey 1
Congenital facial palsy is clinically defined as facial palsy of the 7th cranial nerve which is present at birth or shortly thereafter. Suggested causes of facial palsy include perinatal trauma, intrauterine posture, intrapartum compression, and familial and congenital aplasia of the nucleus.
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We reported two infants aged 2 and 6 months presented with peripheral facial paralysis since birth. The patients were born by cesearean section at term. There were no peri- or postnatal complications. Neurological exams of the patients showed moderate right facial nerve dysfunction. There was no other cranial motor neuropathy. Cardiological, urinary and neurological examinations were unremarkable. Nerve conduction tests revealed an axonal pathology of the right facial nerve in both of the patients. The needle EMG findings were consistent with the nerve conduction tests which revealed an axonal degeneration of the the right facial nerve in both of the patients. In three-dimensional constructive interference in steady state (CISS) images, the right 7th nerves of both patients were not demonstrated in our cases. In conclusion, although cranial images show the anatomical absence of 7th cranial nerves, the electrophysiological tests may demonstrate function of facial nerve in congenital facial palsies as in our patients. We suggest that electrophysiological tests may be performed in patients with cranial nerves absence. DMP012 Hypoplasia of the depressor anguli oris muscle, cause of asymmetric neonatal crying face V. Toopchizadeh *, M. Barzegar. Department of Physical Medicine & Rehabilitation, Tabriz University of Medical Science, Iran Neonatal asymmetric crying facies has incidence of approximately 1 per 160 live births, the cause is either facial nerve compression or faulty muscle and/or nerve development. Depressor anguli oris muscle agenesia or hypoplasia is one of the important causes. Ultrasound imaging of facial muscles and electrodiagnostic study may be useful for diagnosis. Associations of this facial defect with congenital anomalies have been reported, including cardiovascular anomaly, genitourinary, CNS, etc. In this report 10 infants with facial asymmetry are presented that are caused by congenital hypoplasia of the depressor anguli oris muscle on one side of the mouth. Keywords: Facial asymmetry, Infant, Muscle hypoplasia. DMP013 Seckel syndrome R. Teleanu *, M. Moiceanu, A. Lazar, F. Buruiana, D. Plesca, D. Dragomir. University of Medicine Carol Davila Bucharest, Bucharest, Romania Objectives: Seckel syndrome is a very rare autosomal recessive disorder characterized by growth retardation, severe microcephaly with a bird-headed like appearance and mental retardation. Methods: We present 4 patients diagnosed with Seckel syndrome. Results: All patients had severe microcephaly, 2 children experienced epileptic seizures, all had mental retadation and CT scan revealed in all patients a pachygyric cortex. Conclusions: Seckel syndrome is a rare genetically disorder. In some cases, very anusual, children present epileptic seizure. Mental retardation is usually severe and families should be helped for social problems. DMP014 A dysmorphic child with acrocephaly, seizures, long fingers, and cherry red spots: a new association A. Al Mosawi *. University Hospital in Al Kadhimiyia, Iraq Introduction: The association of acrocephaly, cherry red spots, squint, seizures and long spindle fingers has not been reported before. Aim and Material: A 10 month old girl with generalized tonic clonic convulsion despite treatment with sodium valproate and two of her siblings, a girl and boy were similar in
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Abstracts: Poster Presentations, the Seventh European Paediatric Neurology Society (EPNS) Congress
appearance to this girl died from recurrent seizures that didn’t respond to sodium valproate during the first year of life. Seizure was completely controlled with carbamazepine. The aim of this paper is to report a new clinical association. Results: The girl was born at by term with average weight by normal vaginal delivery. The mother did not report taking any drugs during pregnancy. The girl was acrocephaly with flat occiput and has epicanthic fold and bilateral mild convergent squint. At the age of 10 month she did not have any visible tooth. Her fingers were long and spindle in shape. All of her growth parameters were just below the third centiles. Fundoscopi examination showed bilateral macular cherry red spots. Cetavlon test for mucopolysachridosis was negative. Serum and urine chromatography showed no abnormal aminoacids. Table (1) summarizes the cardinal features of this association. Possible inheritance Autosomal recessive Dysmorphic features Acrocephaly with flat occiput and epicanthic fold Eye Bilateral mild convergent squint & bilateral macular cherry red spots Nervous system|Generalized tonic clonic convulsion Hands Long and spindle shaped fingers Other Failure to thrive, mild developmental delay in all fields of development & delayed dentition Karyoype Normal female karyoype
Conclusion: A new clinical association is reported. DMP015 Allan Herndon Dudley syndrome J. Ng *, N.M. Aswani, J.K. Wales, S.R. Mordekar. Sheffield Children’s Hospital, UK Introduction: Allan-Herndon-Dudley syndrome (AHDS) was among the first of the X-linked mental retardation syndromes to be described with mutations in the monocarboxylate transporter 8 (MCT8) gene on the Xq13.2 gene locus. Objective: We describe three male children in a nonconsanguineous Caucasian family with dysmorphic features, global developmental delay and reduced muscle mass with abnormal free triiodothyronine (T3) levels with AHDS. Method: Case series review Results: Following an uneventful pregnancy and normal birth, the index case presented with global developmental delay, reduced muscle mass, microcephaly, hypotelorism, bitemporal narrowing, large ears and macroglossia with clinical euthyroidism. He has two severely affected elder male siblings and two unaffected female siblings. Extensive investigations for underlying aetiology for global developmental delay in these brothers were normal except the thyroid function tests, which showed abnormally high free T3 levels with a normal thyroid stimulating hormone (TSH) and normal thyroxine levels. This biochemical picture with the clinical presentation was characteristic of mutation in the MCT8 gene described in AHDS. He continues to be under Paediatric Neurology and Paediatric Endocrinology review. Conclusion: We suggest that measurement of serum free T3 levels should part of the routine screening investigations in children with X-linked developmental delay. DMP016 Two cases with Costello syndrome E. Demir *, K. Gucuyener, E. Arhan, A. Akturk. Gazi Hospital, ¨ Department of Pediatric Neurology, Gazi University, Ankara, Turkey Background: Costello syndrome is a rare complex developmental disorder. It is clinically characterised by coarse face features, redundant skin, curly hair, hyperlaxity of small joints, cardiac and neurological abnormalities.
Case report: We present two new Turkish patient with Costello syndrome. The first patient was a 7-year-old girl, whose parents were nonconsanguineous. Physical examination showed coarse face, broad nose with wide nares, loose skin, curly hair, deep palmar creases, hyperlaxity and mental retardation. Echocardiography showed mitral valve prolapse, mitral valve stenosis and left ventricular dysfunction. Cranial MRI was normal. The other patient was a 14-year old girl who was the second child of consaguinous parents. She had similar features like coarse face, broad nose, curly hair, hyperlaxity of small joints, mental and motor retardation. She had generalised tonic clonic convulsions. Her seizures were controlled with valproate. Cranial magnetic resonance imaging was normal. Echocardiography showed aorta valve stenosis. Conclusion: To our knowledge, those patients are the first reported cases of Costello syndrome from Turkey. The phenotypes of the cases are delineated detailly. DMP017 Cerebral hemiatrophy (Dyke-Davidoff-Masson syndrome) in childhood: a clinicoradiological analysis of 19 cases M. Atalar, D. Icagasıoglu, F. Tas. Cumhuriyet University School of Medicine, Sivas, Turkey Purpose: The purpose was to emphasize the clinical and imaging findings of 19 child cases of cerebral hemiatrophy. Methods: Eleven male and eight female patients underwent assessment with computed tomography and magnetic resonance imaging. The patients ranged from 1 to 17 years in age. The evaluated parameters were: location of the lesions, midline structural shift effect, ipsilateral calvarial and parenchymal changes. Results: Left cerebral hemiatrophy was seen in fourteen of the cases while right cerebral hemiatrophy was observed in five cases. Unilateral calvarial thickening was seen in 11 cases, hyperpneumatization of paranasal sinuses in 5, and hypoplasia of the middle frontal cranial fossa in 3 patients. Cerebral peduncle atrophy was noted in seven cases. Eleven patients had thalamic atrophy and lentiform nucleus hypoplasia. In one case, cerebral hemiatrophy was associated with ipsilateral large schizencephalic cleft and absence of the septum pellucidum whereas in another case, there was diffuse cerebellar atrophy associated with cerebral hemiatrophy. Conclusions: Computed tomography and, in particular, magnetic resonance imaging are the procedures of choice with respect to assessment of the etiology and extent of cerebral parenchymal involvement in cerebral hemiatrophy. DMP018 Hypothalamic hamartomas in three children 3 1 ¨ ¸ 2 , M. Ozek . Acıbadem Institute of U. I¸sık1 *, A. Dincer Neurological Sciences, Division of Pediatric Neurology, 2Acıbadem Institute of Neurological Sciences, Division of Radiology, 3 Acıbadem Institute of Neurological Sciences, Division of Pediatric Neurosurgery, Turkey
Hypothalamic hamartomas are rare congenital lesions. We present here 3 children diagnosed with hypothalamic hamartomas presenting with different clinical, radiological and EEG findings. Case 1: A 4 month-old boy was diagnosed with hypothalamic hamartoma after a trivial head trauma with a head CT. MRI showed a 1.15×0.8 cm hamartoma at the tuber cinereum with no contrast enhancement. Video EEG monitoring was normal. The patient has had no seizures and his development has been normal at the age of 18 months. Case 2: A 13 month-old girl started to have gelastic seizures at the age of 15 days. MRI showed a T2 hyperintense, T1 isointense huge hypothalamic mass (2.8×2×2.7 cm) with no
Congenital facial palsy is clinically defined as facial palsy of the 7th cranial nerve which is present at birth or shortly thereafter. Suggested causes of facial palsy include perinatal trauma, intrauterine posture, intrapartum compression, and familial and congenital aplasia of the nucleus.
79
We reported two infants aged 2 and 6 months presented with peripheral facial paralysis since birth. The patients were born by cesearean section at term. There were no peri- or postnatal complications. Neurological exams of the patients showed moderate right facial nerve dysfunction. There was no other cranial motor neuropathy. Cardiological, urinary and neurological examinations were unremarkable. Nerve conduction tests revealed an axonal pathology of the right facial nerve in both of the patients. The needle EMG findings were consistent with the nerve conduction tests which revealed an axonal degeneration of the the right facial nerve in both of the patients. In three-dimensional constructive interference in steady state (CISS) images, the right 7th nerves of both patients were not demonstrated in our cases. In conclusion, although cranial images show the anatomical absence of 7th cranial nerves, the electrophysiological tests may demonstrate function of facial nerve in congenital facial palsies as in our patients. We suggest that electrophysiological tests may be performed in patients with cranial nerves absence. DMP012 Hypoplasia of the depressor anguli oris muscle, cause of asymmetric neonatal crying face V. Toopchizadeh *, M. Barzegar. Department of Physical Medicine & Rehabilitation, Tabriz University of Medical Science, Iran Neonatal asymmetric crying facies has incidence of approximately 1 per 160 live births, the cause is either facial nerve compression or faulty muscle and/or nerve development. Depressor anguli oris muscle agenesia or hypoplasia is one of the important causes. Ultrasound imaging of facial muscles and electrodiagnostic study may be useful for diagnosis. Associations of this facial defect with congenital anomalies have been reported, including cardiovascular anomaly, genitourinary, CNS, etc. In this report 10 infants with facial asymmetry are presented that are caused by congenital hypoplasia of the depressor anguli oris muscle on one side of the mouth. Keywords: Facial asymmetry, Infant, Muscle hypoplasia. DMP013 Seckel syndrome R. Teleanu *, M. Moiceanu, A. Lazar, F. Buruiana, D. Plesca, D. Dragomir. University of Medicine Carol Davila Bucharest, Bucharest, Romania Objectives: Seckel syndrome is a very rare autosomal recessive disorder characterized by growth retardation, severe microcephaly with a bird-headed like appearance and mental retardation. Methods: We present 4 patients diagnosed with Seckel syndrome. Results: All patients had severe microcephaly, 2 children experienced epileptic seizures, all had mental retadation and CT scan revealed in all patients a pachygyric cortex. Conclusions: Seckel syndrome is a rare genetically disorder. In some cases, very anusual, children present epileptic seizure. Mental retardation is usually severe and families should be helped for social problems. DMP014 A dysmorphic child with acrocephaly, seizures, long fingers, and cherry red spots: a new association A. Al Mosawi *. University Hospital in Al Kadhimiyia, Iraq Introduction: The association of acrocephaly, cherry red spots, squint, seizures and long spindle fingers has not been reported before. Aim and Material: A 10 month old girl with generalized tonic clonic convulsion despite treatment with sodium valproate and two of her siblings, a girl and boy were similar in
80
Abstracts: Poster Presentations, the Seventh European Paediatric Neurology Society (EPNS) Congress
appearance to this girl died from recurrent seizures that didn’t respond to sodium valproate during the first year of life. Seizure was completely controlled with carbamazepine. The aim of this paper is to report a new clinical association. Results: The girl was born at by term with average weight by normal vaginal delivery. The mother did not report taking any drugs during pregnancy. The girl was acrocephaly with flat occiput and has epicanthic fold and bilateral mild convergent squint. At the age of 10 month she did not have any visible tooth. Her fingers were long and spindle in shape. All of her growth parameters were just below the third centiles. Fundoscopi examination showed bilateral macular cherry red spots. Cetavlon test for mucopolysachridosis was negative. Serum and urine chromatography showed no abnormal aminoacids. Table (1) summarizes the cardinal features of this association. Possible inheritance Autosomal recessive Dysmorphic features Acrocephaly with flat occiput and epicanthic fold Eye Bilateral mild convergent squint & bilateral macular cherry red spots Nervous system|Generalized tonic clonic convulsion Hands Long and spindle shaped fingers Other Failure to thrive, mild developmental delay in all fields of development & delayed dentition Karyoype Normal female karyoype
Conclusion: A new clinical association is reported. DMP015 Allan Herndon Dudley syndrome J. Ng *, N.M. Aswani, J.K. Wales, S.R. Mordekar. Sheffield Children’s Hospital, UK Introduction: Allan-Herndon-Dudley syndrome (AHDS) was among the first of the X-linked mental retardation syndromes to be described with mutations in the monocarboxylate transporter 8 (MCT8) gene on the Xq13.2 gene locus. Objective: We describe three male children in a nonconsanguineous Caucasian family with dysmorphic features, global developmental delay and reduced muscle mass with abnormal free triiodothyronine (T3) levels with AHDS. Method: Case series review Results: Following an uneventful pregnancy and normal birth, the index case presented with global developmental delay, reduced muscle mass, microcephaly, hypotelorism, bitemporal narrowing, large ears and macroglossia with clinical euthyroidism. He has two severely affected elder male siblings and two unaffected female siblings. Extensive investigations for underlying aetiology for global developmental delay in these brothers were normal except the thyroid function tests, which showed abnormally high free T3 levels with a normal thyroid stimulating hormone (TSH) and normal thyroxine levels. This biochemical picture with the clinical presentation was characteristic of mutation in the MCT8 gene described in AHDS. He continues to be under Paediatric Neurology and Paediatric Endocrinology review. Conclusion: We suggest that measurement of serum free T3 levels should part of the routine screening investigations in children with X-linked developmental delay. DMP016 Two cases with Costello syndrome E. Demir *, K. Gucuyener, E. Arhan, A. Akturk. Gazi Hospital, ¨ Department of Pediatric Neurology, Gazi University, Ankara, Turkey Background: Costello syndrome is a rare complex developmental disorder. It is clinically characterised by coarse face features, redundant skin, curly hair, hyperlaxity of small joints, cardiac and neurological abnormalities.
Case report: We present two new Turkish patient with Costello syndrome. The first patient was a 7-year-old girl, whose parents were nonconsanguineous. Physical examination showed coarse face, broad nose with wide nares, loose skin, curly hair, deep palmar creases, hyperlaxity and mental retardation. Echocardiography showed mitral valve prolapse, mitral valve stenosis and left ventricular dysfunction. Cranial MRI was normal. The other patient was a 14-year old girl who was the second child of consaguinous parents. She had similar features like coarse face, broad nose, curly hair, hyperlaxity of small joints, mental and motor retardation. She had generalised tonic clonic convulsions. Her seizures were controlled with valproate. Cranial magnetic resonance imaging was normal. Echocardiography showed aorta valve stenosis. Conclusion: To our knowledge, those patients are the first reported cases of Costello syndrome from Turkey. The phenotypes of the cases are delineated detailly. DMP017 Cerebral hemiatrophy (Dyke-Davidoff-Masson syndrome) in childhood: a clinicoradiological analysis of 19 cases M. Atalar, D. Icagasıoglu, F. Tas. Cumhuriyet University School of Medicine, Sivas, Turkey Purpose: The purpose was to emphasize the clinical and imaging findings of 19 child cases of cerebral hemiatrophy. Methods: Eleven male and eight female patients underwent assessment with computed tomography and magnetic resonance imaging. The patients ranged from 1 to 17 years in age. The evaluated parameters were: location of the lesions, midline structural shift effect, ipsilateral calvarial and parenchymal changes. Results: Left cerebral hemiatrophy was seen in fourteen of the cases while right cerebral hemiatrophy was observed in five cases. Unilateral calvarial thickening was seen in 11 cases, hyperpneumatization of paranasal sinuses in 5, and hypoplasia of the middle frontal cranial fossa in 3 patients. Cerebral peduncle atrophy was noted in seven cases. Eleven patients had thalamic atrophy and lentiform nucleus hypoplasia. In one case, cerebral hemiatrophy was associated with ipsilateral large schizencephalic cleft and absence of the septum pellucidum whereas in another case, there was diffuse cerebellar atrophy associated with cerebral hemiatrophy. Conclusions: Computed tomography and, in particular, magnetic resonance imaging are the procedures of choice with respect to assessment of the etiology and extent of cerebral parenchymal involvement in cerebral hemiatrophy. DMP018 Hypothalamic hamartomas in three children 3 1 ¨ ¸ 2 , M. Ozek . Acıbadem Institute of U. I¸sık1 *, A. Dincer Neurological Sciences, Division of Pediatric Neurology, 2Acıbadem Institute of Neurological Sciences, Division of Radiology, 3 Acıbadem Institute of Neurological Sciences, Division of Pediatric Neurosurgery, Turkey
Hypothalamic hamartomas are rare congenital lesions. We present here 3 children diagnosed with hypothalamic hamartomas presenting with different clinical, radiological and EEG findings. Case 1: A 4 month-old boy was diagnosed with hypothalamic hamartoma after a trivial head trauma with a head CT. MRI showed a 1.15×0.8 cm hamartoma at the tuber cinereum with no contrast enhancement. Video EEG monitoring was normal. The patient has had no seizures and his development has been normal at the age of 18 months. Case 2: A 13 month-old girl started to have gelastic seizures at the age of 15 days. MRI showed a T2 hyperintense, T1 isointense huge hypothalamic mass (2.8×2×2.7 cm) with no