Journal of Pediatric Neurology - Volume 7, issue 2

Authors: Currie, Stuart | Gains, Claire

Article Type: Research Article

Abstract: This article reports a full-term female who was diagnosed with isolated sulfite oxidase deficiency and hypertrophic pyloric stenosis. Isolated sulfite oxidase is a rare condition and to our knowledge, its association with pyloric stenosis has not been previously reported. The etiology of the two conditions is unclear however reports demonstrate neuronal deficiency in both. We review the imaging features and propose a pathophysiological link between these two conditions.

Keywords: Isolated sulfite oxidase deficiency, pyloric stenosis, nitric oxide, nitric oxide synthase

DOI: 10.3233/JPN-2009-0280

Citation: Journal of Pediatric Neurology, vol. 7, no. 2, pp. 181-186, 2009

Authors: Lagunju, IkeOluwa A. | Ogunbiyi, Adebola | Ogunseyinde, Ayotunde O.

Article Type: Research Article

Abstract: Proteus syndrome is a rare disorder characterized by asymmetric, disproportionate, progressive overgrowth of the skin, muscle, other connective tissues, the brain and indeed, virtually any organ in the body. Epilepsy is a recognized feature of Proteus syndrome. The case of a 16-month-old Nigerian child, with the classical features of Proteus syndrome and epilepsy is presented.

Keywords: Proteus syndrome, childhood epilepsy, African

DOI: 10.3233/JPN-2009-0288

Citation: Journal of Pediatric Neurology, vol. 7, no. 2, pp. 187-191, 2009

Authors: Işık, Uǧur | Dinçer, Alp | Sav, Aydın | Özek, Memet M.

Article Type: Research Article

Abstract: Patients with cerebellar lesions rarely present with seizures. There is only limited data about seizure types and electroencephalographic findings in patients with cerebellar lesions. We present here three children with cerebellar lesions whose first clinical presentations were seizures. One of these children (cerebellar dysplasia) was operated and his seizures stopped after the surgery. Two other children are followed with periodic cranial magnetic resonance imaging every 6 months. Their seizures have been controlled …with antiepileptic medications. Seizures can develop in children with cerebellar lesions. The coexistence of a cerebellar lesion with seizures should raise the possibility of cerebellar epileptic seizures and prompt a thorough investigation of the presence of subcortical epilepsy. Show more

Keywords: Children, cerebellum, cortical dysplasia, seizure

DOI: 10.3233/JPN-2009-0286

Citation: Journal of Pediatric Neurology, vol. 7, no. 2, pp. 193-198, 2009

Authors: Mandal, Subinay | Hembram, Debasish

Article Type: Research Article

Abstract: A 27-day-old girl child was admitted to our sick newborn care unit with neonatal seizure, piebald trait, corpus callosum dysgenesis and multiple dysmorphic features. Cytogenetic analysis revealed a female karyotype with interstitial deletion of the long arm of chromosome 4.

Keywords: Interstitial deletion, congenital malformation, piebald trait, neonatal seizure

DOI: 10.3233/JPN-2009-0281

Citation: Journal of Pediatric Neurology, vol. 7, no. 2, pp. 199-201, 2009

Authors: Singhi, Pratibha | Aulakh, Roosy | Singh, Paramjit

Article Type: Research Article

Abstract: Methylmalonic acidemia is a genetically heterogeneous disorder characterized by accumulation of methylmalonic acid and its by-products in biological fluids that leads to numerous neurologic sequelae such as hypotonia, stroke, encephalopathy and mental retardation. Infantile spasms with hypsarrhythmias and acute extrapyramidal symptoms are rarely reported. We report a three and a half year old child with methylmalonic acidemia who presented at 1 year of age with infantile spasms, which were controlled with adrenocorticotrophin …hormone therapy. Later, he presented with altered sensorium, cerebral venous thrombosis and acute extrapyramidal symptoms during decompensation phase. The child showed significant response to dietary protein restriction and hydroxycobalamin and carnitine supplementation. Show more

Keywords: Methylmalonic acidemia, infantile spasms, cerebral venous thrombosis, acute extrapyramidal symptoms

DOI: 10.3233/JPN-2009-0285

Citation: Journal of Pediatric Neurology, vol. 7, no. 2, pp. 203-207, 2009

Authors: Akingbola, Olugbenga A. | Eduardo, Gonzalez-Toledo | Jeroudi, Majed A.

Article Type: Research Article

Abstract: This is a case of posterior leukoencephalopathy syndrome (PLES) in an 11-year-old African-American male treated with oral cyclosporine while on admission for idiopathic aplastic anemia in the intensive care unit at Louisiana State University, Shreveport, USA. The patient had tonic-clonic seizures preceded by visual hallucinations and hypertension. Magnetic resonance imaging with fluid attenuated inversion-recovery sequences revealed presence of cerebral edema in the cortical and subcortical regions of the frontal, supraventricular and posterior …parietal lobes consistent with PLES. Resolution of PLES lesions occurred with a 25% reduction in dose of oral cyclosporine, control of seizure activity and treatment of hypertension. Patient recovered completely and was discharged home on anticonvulsant and antihypertensive medications that were subsequently discontinued at follow-up visit. Show more

Keywords: PLES, cyclosporine, hypertension, hypomagnesemia, seizures, aplastic anemia

DOI: 10.3233/JPN-2009-0284

Citation: Journal of Pediatric Neurology, vol. 7, no. 2, pp. 209-213, 2009

Authors: Farook, Shahme A. | Dherijha, Mohammed S. | Ismail, Azzam | Crimmins, Darach W.

Article Type: Research Article

Abstract: Cerebral abscess is a rare complication of cerebrospinal fluid shunts as are Gram-negative infections. We present a case of Gram-negative cerebral abscess presenting 2 years following cerebrospinal fluid shunt insertion in a child with cerebral palsy and multiple abdominal procedures. The child presented with a 2-week history of nausea and low-grade pyrexia had raised inflammatory makers. A cranial computed tomography scan did identify a multiloculated ventricle with the tip of the proximal end of the …ventriculoperitoneal shunt confined within an abscess cavity. Treatment was by excision of the abscess and a period of external drainage and antibiotics. Show more

Keywords: Cerebrospinal fluid, shunt infections, cerebral abscess

DOI: 10.3233/JPN-2009-0283

Citation: Journal of Pediatric Neurology, vol. 7, no. 2, pp. 215-218, 2009

Authors: Kumar, Raj | Pandey, Shilpi | Mahapatra, Ashok Kumar

Article Type: Research Article

DOI: 10.3233/JPN-2009-0287

Citation: Journal of Pediatric Neurology, vol. 7, no. 2, pp. 219-221, 2009