Complexities of pyridoxine response in PNPO deficiency.

Pyridox(am)ine- 5- phosphate Oxidase deficiency (PNPO) is a rare cause of neonatal metabolic encephalopathy associated with refractory status epilepticus. We report a case of a premature neonate presenting with drug-resistant seizures beginning at 2 hours of life. The baby showed initial transient response to pyridoxine followed by recurrence. Genetic report confirmed the diagnosis of PNPO deficiency. A literature review on phenotypic variants in terms of response to pyridoxine is also presented along with a proposed algorithm to manage a case of suspected vitamin responsive epilepsy. This case highlights our limited understanding of why variation in response to treatment exists in children with PNPO deficiency.

Electrographic pattern recognition: A simple tool to predict clinical outcome in children with lissencephaly.

PURPOSE: To describe and correlate the clinical, radiological and EEG findings in children with lissencephaly. METHOD: Retrospective record analysis of children with lissencephaly presenting to tertiary health centre in Northern India was performed. Radiological classification and severity scoring were done. EEG findings were categorized into three patterns and its association with clinical severity was studied. RESULTS: Twenty-eight children (males = 17) with lissencephaly were enrolled. Median age at diagnosis was 6.5months (range 3days-3years). Global developmental delay (median social quotient (SQ) = 25 (range15-68) was seen in all; motor deficits in 23 (82 %); epilepsy in 21 (75 %); behavioural problems in 18 (64 %); ophthalmic problems in 17 (61 %); microcephaly in 13 (46 %); feeding difficulty in 12 (43 %). Radiologically, classical Type I lissencephaly was seen in 18(64 %), cobblestone variant (Type II) in 5 (18 %) and microlissencephaly in 5 (18 %). Grade 4 (diffuse pachygyria) radiologic severity was most common (severity grade 1-6); no cases with severity score 5 or 6 were seen. The clinical profile did not correspond with radiological severity grading. EEG pattern recognition revealed pattern I in 14 (50 %); pattern II in 6 (21 %); pattern III in 8 (29 %). Children with pattern III EEG had drug resistant epilepsy and severe developmental delay. No relationship between EEG patterns and radiological severity grading was evident. CONCLUSION: EEG is better predictor of clinical status and outcome rather than radiological severity grading. EEG pattern III is associated with severe developmental delay and drug resistant epilepsy.

Status Epilepticus in Neonates and Infants.

Status epilepticus (SE) is a common neurological emergency in childhood associated with high mortality and morbidity. Acute management of seizures along with aggressive evaluation for establishing the underlying cause are crucial determinants of outcome. Neonatal status epilepticus carries the burden of poor neurological outcomes and may lead to global developmental delay as well as persistent seizures. The aetiology and pathophysiological mechanisms of SE in neonates and young infants differ compared to older children and adults. The most common causes of SE in neonates includes hypoxic sequelae, ischemic stroke and intracranial haemorrhage. In infants, febrile status epilepticus and acute symptomatic seizures are more common than remote symptomatic causes. Recent advances in neuroimaging modalities and molecular diagnostic techniques have facilitated better diagnostic precision. There is deplorable lack of evidence evaluating management strategies of SE in this age group. In addition to prompt initiation of antiseizure medications, vitamin supplementation needs to be empirically added. Simultaneously, meticulous evaluation to determine cause must also be conducted. In this review, we discuss challenges and an algorithmic approach to the diagnosis and management of SE in neonates and infants.

Unusual Presentation of PMM2-Congenital Disorder of Glycosylation With Isolated Strokelike Episodes in a Young Girl.

Congenital disorders of glycosylation (CDG) are multisystemic inherited metabolic disorders with marked phenotypic variability. The most frequent described type is PMM2-CDG (earlier known as CDG Type Ia) which presents either with pure neurologic features or with combined neurologic and systemic features. The classical presentation is characterized by varied combinations of developmental delay, hypotonia, ataxia, dysmorphism, inverted nipples, and abnormal fat distribution. Strokelike episodes and seizures are known acute complications that usually occur on a background of developmental delay, ataxia, or dysmorphism. We report here a developmentally normal young girl who presented with isolated strokelike episodes and was diagnosed to have CDG Type Ia. This condition should be kept in the differentials of unexplained strokelike episodes in children. The diagnosis has important therapeutic and prognostic implications.

Electroencephalography in Pediatric Epilepsy.

Surface electroencephalography (EEG) is a useful electrophysiological investigation for evaluating a paroxysmal event in children. It measures the electro potential difference between two points on the scalp. It is a non-invasive tool that analyzes neuronal maturation and abnormal cortical excitability. EEG helps in differentiating epileptic from non-epileptic clinical event and focal seizures from generalized seizure. This review is to discuss the rational use of interictal scalp EEG in diagnosis of epilepsy and different types of epilepsy syndromes in children. It further highlights its role in febrile seizure, first unprovoked seizure, status epilepticus and unexplained coma.

Goniometric Assessment of Muscle Tone of Preterm Infants and Impact of Gestational Age on Its Maturation in Indian Setting.

CONTEXT: The normative data on muscle tone of preterm infants by goniometric assessment in Indian setting are scarce. AIM: The aim of this study it to provide a normative objective data of muscle tone of preterm infants by gestation using goniometer. SETTINGS AND DESIGN: This was a prospective, observational study including preterm infants admitted in a tertiary care hospital from North India. SUBJECTS AND METHODS: The objective dimension of muscle tone assessment of 204 healthy preterm infants was done; 61 infants completed follow-up till 40 weeks' postconceptional age (PCA) and were compared to term infants. STATISTICAL ANALYSIS USED: SPSS (version 16.0) was used. The intergroup comparison was done through ANOVA, and the localization of differences between the groups was determined through multiple comparisons by post hoc test. RESULTS: Mean gestational age was 34.3 ± 1.7 weeks. Angles were as follows: adductor = 100.1 ± 8.7, popliteal = 118.9 ± 8.6, dorsiflexion = 39.0 ± 9.0, heel to ear = 121.90 ± 7.90, wrist flexion = 46.0 ± 10.2, and arm recoil = 122.2° ± 16.6°. The evolution of muscle tone as indicated by heel-to-ear angle shows progressive maturation from 32 weeks' gestation while adductor angle, popliteal angle, and arm recoil mature predominantly after 36 weeks' gestation. Comparison of preterm infants to term at 40 weeks' PCA demonstrated significantly less tone in all except posture and heel to ear. CONCLUSIONS: Goniometric assessment provides a objective normative data of muscle tone for preterm infants. Maturation of heel to ear and posture evolves from 32 weeks onwards and are the earliest neurologic marker to mature in preterm infants independent of the gestational age at birth.

Ophthalmic examination as a means to diagnose Subacute Sclerosing Panencephalitis: an optical coherence tomography and ultrawide field imaging evaluation.

BACKGROUND: Subacute sclerosing panencephalitis (SSPE) is a potentially fatal complication of measles. The authors report a case of recurrent myoclonic jerks under investigation, whose ophthalmic examination pointed to the diagnosis. CASE PRESENTATION: A 12-year-old boy with recurrent episodes of myoclonic jerks was found to have optic disc pallor and an irregular macular scar with pigmentation in the left eye. The retinal finding proved to be a strong diagnostic clue for SSPE. There was a history of exanthematous fever in childhood. Antibodies against measles were detected in both the cerebrospinal fluid and serum. Retinitis with intraretinal and subretinal hemorrhage in the right eye was noted 6-weeks after the initial presentation. CONCLUSION: The authors describe the importance of ophthalmic evaluation in cases of recurrent myoclonic jerks. Optical coherence tomographic features and ultrawide field imaging characteristics of a case of SSPE are described.