Journal of Pediatric Neurology - Volume 7, issue 3

Authors: Sankhyan, Naveen | Kalra, Veena | Aksentijevich, Ivona | Kabra, Madhulika | Gulati, Sheffali | Sharma, Suvasini

Article Type: Research Article

Abstract: The authors report a sporadic case of a rare periodic fever, the neonatal onset multisystem inflammatory disease. A 7-year-old boy presented with symptoms since the age of two. He had recurrent episodes of fever, rash and meningitis, progressive hearing loss, arthralgia and failure of growth. His examination revealed mild dysmorphic features, clubbing, wasting, stunting, and erythema nodosum like rash on the limbs, healed posterior uveitis and chorioretinitis, mild spasticity in lower limbs, deafness and borderline …intelligence quotient. Investigations revealed dextrocardia, situs inversus, absence of autoimmune markers, and elevated erythrocyte sedimentation rate. Neuroimaging showed gliotic areas in bilateral cerebellar hemispheres. Genetic screen for mutations in all nine exons of NLRP3 was negative. The clinical features, variability in severity and possible genetic mechanisms are discussed. Show more

Keywords: CINCA, auto inflammatory, rheumatic, periodic fever, arthropathy

DOI: 10.3233/JPN-2009-0297

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 301-305, 2009

Authors: Rohilla, Seema | Rawal, Manoj | Yadav, Rohtas K. | Ahuja, Amit | Nanda, Sanjiv | Dhaulakhandi, Dhara B.

Article Type: Research Article

Abstract: Neurocysticercosis (NCC) is known to have varied presentations ranging from simple psychosis to stroke and death. While NCC may affect any part of brain or spinal cord, endocrinopathies due to NCC involving hypothalamus and pituitary gland are very rare. A 7-year-old child presented with polyuria and polydipsia for 1 year. After ruling out peripheral diabetes insipidus, a magnetic resonance imaging scan of the brain was done which showed a small cystic lesion in the proximal pituitary …stalk. Similar cystic lesions were also seen in other areas of the brain. Cerebrospinal fluid enzyme linked immunosorbent assay for cysticercosis was positive. Such a case of NCC involving pituitary stalk and presenting as central diabetes insipidus is, to the best of our knowledge, the first report of both the location and clinical presentation of NCC in children. Show more

Keywords: Neurocysticercosis, diabetes insipidus, polyuria, pituitary

DOI: 10.3233/JPN-2009-0295

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 307-310, 2009

Authors: Chambers, Roxanne H. Melbourne | Johnson, Peter B. | Thame, Minerva M.

Article Type: Research Article

Abstract: Two male infants who were both survivors of monochorionic twin pregnancies in which there was intrauterine demise of one twin are described. These infants had features of microcephaly associated with radiologic features of porencephaly, hydranencephaly and microcranium. The diagnosis assigned was severe fetal brain disruption sequence. Both infants had severe developmental delay and one infant died suddenly at age 7 months. A comparison is made with previously reported cases. The diagnosis of fetal brain disruption sequence …should be entertained in infants with severe congenital microcephaly with overlapping sutures associated with scalp rugae and should be anticipated in twin pregnancies in which there has been demise of one co-twin during the second trimester. Show more

Keywords: Fetal brain disruption, twin pregnancy, microcephaly, microhydranencephaly

DOI: 10.3233/JPN-2009-0299

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 311-314, 2009

Authors: Basu, Biswanath

Article Type: Research Article

Abstract: A 4-year-old child with history of accidental ingestion of 13 tablets isoniazid-rifampicin (89 mg/kg isoniazid), 1 hr earlier, presented with generalized tonic-clonic seizure, which was refractory to diazepam, phenytoin and phenobarbitone. Given in gram per gram amounts of the isoniazid ingested, intravenous pyridoxine (vitamin B_{6} ) ultimately terminated the seizure activity. Isoniazid inhibits brain pyridoxal-5-phosphate, the active form of pyridoxine, resulting in decrease in the brain level of gamma aminobutyric acid …causing decrease in seizure threshold. Isoniazid toxicity should be suspected in any patient who presents with refractory seizure and physicians must be prepared to counteract the potentially fatal toxic effects with pyridoxine. Show more

Keywords: Isoniazid, status epilepticus, pyridoxine

DOI: 10.3233/JPN-2009-0305

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 315-316, 2009

Authors: Rennert, Janine | Doelken, Regina | Doelken, Marc | Doerfler, Arnd

Article Type: Research Article

Abstract: Leukoencephalopathy and cerebral atrophy occur as prominent radiological features in early onset neurodegenerative disorders of inherited metabolic origin. Menkes disease is a rare X-linked recessive disorder, characterized by neurodevelopmental delay in early infancy, failure to thrive and seizures. While diagnosis of Menkes disease is usually based upon clinical, genetic and laboratory findings, typical radiolological features such as extensive lesions in the white and grey matter are present. Alterations found in more advanced …stages are generalized atrophy and vascular changes. We present the case of a 10-month-old boy with Menkes disease, showing extensive abnormal signal of cerebral white matter, followed by generalized cerebral atrophy in magnetic resonance imaging. Show more

Keywords: Menkes disease, MRI, neurodegenerative disorder, leukoencephalopahy

DOI: 10.3233/JPN-2009-0296

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 317-320, 2009

Authors: Kumar, Raj | Pande, Shilpi | Srivastava, Arun K. | Mahapatra, Ashok K.

Article Type: Research Article

Abstract: Cervical myelocystocele is a rare form of occult spinal dysraphism in which the central canal of spinal cord and subarachnoid space are herniated through a posterior spina bifida. It is commonly associated with Chiari II malformation, but in the present case it was associated with the Chiari I malformation, the child has no neurological deficit at presentation. The entity of cervical myelocystocele rare but it must be kept in differential diagnosis of cervical spinal dysraphism. The …mechanism of dilatation of central canal into cervical meningocele is also different in relation to terminal myelocystocele of lumbosacral region, which is discussed in this report. Show more

Keywords: Cervical myelocystocele, myelocystocele, spinal dysraphism

DOI: 10.3233/JPN-2009-0294

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 321-324, 2009

Authors: Kalane, Umesh | Kulkarni, Shilpa

Article Type: Research Article

Abstract: PHACE syndrome (posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects and eye abnormalities) is a rare congenital anomaly with a broad spectrum of clinical manifestations. We describe an infant with PHACE syndrome with its classical features. Review of the literature documents a highly significant association between ipsilateral hemangiomas and cerebrovascular and aortic arch anomalies. It is important to differentiate between Sturge-Weber syndrome and PHACE syndrome.

Keywords: PHACE syndrome, facial hemangiomas, arterial anomalies

DOI: 10.3233/JPN-2009-0298

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 325-327, 2009

Authors: Mandal, Subinay | Bid, Debashis

Article Type: Research Article

Abstract: Hereditary spastic paraparesis/familial spastic paraparesis is a group of clinically and genetically diverse disorders characterized by progressive usually severe, lower extremity weakness and spasticity. Vitiligo with spastic paraparesis, a disorder of hereditary spastic paraparesis group, is a rare neurocutaneous syndrome. Herein, we report a case of vitiligo with spastic paraparesis with a family history of similar type of disease in another sib, in a family of non-consanguineous marriage.

Keywords: Vitiligo, hereditary spastic paraparesis, syndrome, heterogeneous

DOI: 10.3233/JPN-2009-0306

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 329-331, 2009

Authors: Arya, Ravindra | Sahu, Jitendra K. | Kabra, Madhulika

Article Type: Research Article

DOI: 10.3233/JPN-2009-0311

Citation: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 333-335, 2009