Epileptic Spasms During Recovery From Nutritional Infantile Vitamin B12 Deficiency.

Development of epileptic spasms in infants with vitamin B12 deficiency is uncommon. In some cases, infants presenting with epileptic spasms have been found to have concurrent vitamin B12 deficiency. Treatment with vitamin B12 and adrenocorticotropic hormone (ACTH) resulted in resolution of epileptic spasms. In others, epileptic spasms have developed during recovery from vitamin B12 deficiency. Treatment with ACTH or other seizure medications resulted in resolution of epileptic spasms, although response has been less predictable. We describe three infants who initially presented with clinical and laboratory features of vitamin B12 deficiency. Treatment with vitamin B12 resulted in rapid resolution of symptoms. However, recovery was interrupted by the development of epileptic spasms. All infants showed hypsarrhythmia on electroencephalography. Treatment with prednisolone, with or without other antiseizure medications, resulted in slow resolution of spasms. Cognitive and language delays were noted in two infants. Epileptic spasms may supervene during recovery from vitamin B12 deficiency affecting outcomes.

Mineralizing Lenticulostriate Vasculopathy: An Emerging Risk Factor for Basal Ganglia Stroke After Minor Head Trauma in Young Children.

Mineralizing lenticulostriate vasculopathy is a well-recognized risk factor for basal ganglia stroke after minor head trauma in infants and young children; it is diagnosed on head computed tomography by the presence of basal ganglia calcification, seen as punctate hyperdensities on axial and linear hyperdensities on reconstructed coronal and sagittal images. In children with anterior fontanel window, its presence is suggested by branching hyperechogenic stripes in the basal ganglia region on cranial ultrasound. Brain magnetic resonance imaging, including susceptibility-weighted sequences and brain magnetic resonance angiography, fail to detect calcification or vascular abnormalities. Although its etiology remains unknown, mineralizing lenticulostriate vasculopathy is considered to represent end-stage pathology of lenticulostriate vasculopathy, a neonatal radiographic condition detected during routine neonatal cranial ultrasonographic examination and represents nonspecific finding associated with a multitude of etiologies. The significance of mineralizing lenticulostriate vasculopathy lies in the fact that it has emerged as one of the most common risk factors for basal ganglia stroke in Indian children, accounting for one-fourth to one-half of all causes of stroke in some studies. The outcome of stroke in children with mineralizing lenticulostriate vasculopathy appears to be favorable with the majority achieving complete or nearly complete recovery of their motor functions. Stroke recurrence following repeat head trauma is seen in a small proportion of children despite aspirin treatment.

Arterial Ischemic Stroke-Peculiarities of Clinical Presentation and Risk Factors in Indian Children.

There are not enough recent studies on arterial ischemic stroke (AIS) in Indian children. We retrospectively reviewed data on 95 children (69 boys), aged 3 months to 17 years, with AIS. Focal signs were noted in 84 (88%) with hemiparesis in 72 (76%). Diffuse signs were present in 33 (35%) with fever in 22 (23%), altered mental status in 20 (21%), and headache in 12 (13%). Seizures occurred in 29 (31%) children. Arteriopathy was observed in 57 (60%) children with mineralizing lenticulostriate vasculopathy (mLSV) in 22 (23%) being the most common, followed by moyamoya in 14 (15%), arterial dissection in 9 (10%), and focal cerebral arteriopathy (FCA) in 8 (8%). Preceding head/neck trauma was present in 27 (28%) children: 23 had minor head trauma (MHT), 3 neck trauma, and 1 unspecified. Other common risk factors (RFs) were iron deficiency in 10 children, homocysteinemia in 8 children, and tuberculous meningitis in 5 children. Complete or nearly complete recovery occurred in 42 (44%). Nine children developed epilepsy and five cognitive and language disability. Stroke recurrences occurred in nine children. Overall, arteriopathies accounted for majority of the cases of childhood AIS in our study with mLSV and moyamoya being the most frequent. Compared with data from Western countries, FCAs, postvaricella arteriopathy, and arterial dissections were less common. Of the nonarteriopathic RFs, MHT, iron deficiency, homocysteinemia, and neuroinfections were most frequent in our cohort in contrast to cardioembolic diseases and inherited procoagulant conditions, which are common in developed countries.

Antiepileptic Drug Prices, Availability and Affordability in a Resource-Limited Setting.

BACKGROUND: The availability and affordability of antiepileptic drugs (AEDs) are critical to the success of public health initiatives enabling care for people with epilepsy in the community. OBJECTIVE: To pilot survey the availability and affordability of AEDs in the community. METHODS: Field workers used standard WHO-Health Action International approaches and collected data on the availability of, and maximum retail prices of originator brands and least price generics of AEDs in 46 randomly selected public (n = 29), private (n = 8), and charitable (n = 9) pharmacy outlets. Median price ratios were computed apropos international reference prices of corresponding medications and affordability gauged with reference to daily wage of lowest paid worker. RESULTS: Only 10 outlets (7 - private, 3 - public, and none - charitable) stocked at least one essential AED. Median price ratios varied between 1.1 and 1.5 essentially reflecting the difference between the least price generics and originator brands. Of note, carbamazepine-retard, 200 mg put up the slightest difference in prices of originator and least price generic brands and also was the most affordable AED. CONCLUSIONS: The availability and affordability of most AEDs were poor and hence, this needs to be studied on a wider scale and thereafter efforts to improve both the availability and affordability are desirable in order to address the huge treatment gap for epilepsy in India.

Dermatologic findings of vitamin B12 deficiency in infants.

BACKGROUND/OBJECTIVES: Vitamin B12 deficiency in infants is uncommonly reported from developed countries and generally lacks dermatologic manifestations. On the contrary, infantile vitamin B12 deficiency is common in India and cutaneous manifestations are a constant feature, although often overshadowed by neurologic and hematological manifestations. The aim of this study was to describe the skin changes of vitamin B12 deficiency in infants. MATERIALS AND METHODS: A retrospective chart review of vitamin B12 deficient infants for clinical and laboratory parameters was performed and data analyzed. RESULTS: Forty-three infants, 30 boys and 13 girls, aged 4 to 27 months, with vitamin B12 deficiency were identified. Skin hyperpigmentation was present in 41 infants; it was localized to the dorsa of hands and feet in 26. Fifteen infants had generalized hyperpigmentation; 10 had a reticulate pattern, and 5 had a homogeneous pattern. Brown and sparse scalp hair were present in all. Glossitis was seen in 5 infants and cheilitis in 3. Of the 32 infants who underwent laboratory investigations, 28 had anemia and 21 macrocytosis. Serum vitamin B12 was measured in 30 infants; it was low in 19. Of the 11 with normal serum vitamin B12 , 9 had received vitamin B12 before referral but had macrocytosis and low maternal serum vitamin B12 . The infants were treated with vitamin B12 . Skin pigmentation and mucosal changes resolved completely by 3-4 weeks, but hair changes were slower to reverse. CONCLUSION: Cutaneous findings are a common feature of vitamin B12 deficiency in Indian infants and resolve with treatment.

Stroke After Minor Head Trauma in Infants and Young Children With Basal Ganglia Calcification: A Lenticulostriate Vasculopathy?

The authors retrospectively reviewed charts of the children with basal ganglia stroke who either had preceding minor head injury or showed basal ganglia calcification on computed tomography (CT) scan. Twenty children, 14 boys and 6 girls were identified. Eighteen were aged between 7 months to 17 months. Presentation was with hemiparesis in 17 and seizures in 3. Preceding minor head trauma was noted in 18. Family history was positive in 1 case. Bilateral basal ganglia calcification on CT scan was noted in 18. Brain magnetic resonance imaging done in 18 infants showed acute or chronic infarcts in basal ganglia. Results of other laboratory and radiological investigations were normal. Four infants were lost to follow-up, 9 achieved complete or nearly completely recovery, and 7 had persistent neurological deficits. Basal ganglia calcification likely represents mineralized lenticulostriate arteries, a marker of lenticulostriate vasculopathy. Abnormal lenticulostriate vessels are vulnerable to injury and thrombosis after minor head trauma resulting in stroke.

Vitamin B12 Status of Mothers of Children with Infantile Tremor Syndrome.

Retrospective chart review of 15 patients with infantile tremor syndrome in which mothers had their serum vitamin B12 measured, showed low (<200 pg/mL) serum vitamin B12 in 9 and low-normal (<200-350 pg/mL) in 6. Of the 9 mothers who had undergone complete blood counts, anemia was present in 6 and macrocytosis in 3. Vitamin B12 deficiency appears to be common in mothers of infants with infantile tremor syndrome.

Infantile tremor syndrome: A review and critical appraisal of its etiology.

Infantile tremor syndrome (ITS) is defined by the tetrad of pallor, developmental delay/regression, skin pigmentation, and brown scanty scalp hair. Involuntary movements in the form of tremors supervene in the natural course of the illness in a significant number of cases. The disorder occurs in exclusively breast-fed infants of vegetarian mothers belonging to economically deprived sections of society. Most of the children eventually recover but are frequently left with long-term cognitive and language neurodeficits. ITS continues to be seen in clinical practice, but there has been no consensus on its causation. Last comprehensive review was published in 1987 describing the ITS as a syndrome of unknown or multiple etiologies. Several important papers have been published since then. This review attempts to provide comprehensive and up-to-date information on the subject incorporating recently published studies. In the end, the issue of etiology is objectively re-examined in the light of available evidence some of which has been published in recent years.

Benign neonatal sleep myoclonus: frequently misdiagnosed as neonatal seizures.

18 neonates aged 5-60 days with Benign neonatal sleep myoclonus were identified. Fifteen neonates had been misdiagnosed as neonatal seizures before referral. All treatments were withdrawn once the diagnosis of benign neonatal sleep myoclonus was made. Benign neonatal sleep myoclonus should be considered early in the differential diagnosis of neonatal seizures.

Neurology of Nutritional Vitamin B12 Deficiency in Infants: Case Series From India and Literature Review.

We studied 27 infants aged 6 to 27 months with vitamin B12 deficiency also known as "infantile tremor syndrome" in India. All were exclusively breast-fed by vegetarian mothers. Developmental delay or regression, pallor, skin hyperpigmentation, and sparse brown hair were present in all. Majority were hypotonic and involuntary movements were encountered in 18. Anemia and macrocytosis was found in 83% and 71% infants, respectively. Low serum vitamin B12 was present in 12 of 21 infants. Seven of the 9 infants with normal serum vitamin B12 had received vitamin B12 before referral. Twelve mothers had low serum vitamin B12. Cerebral atrophy was present in all the 9 infants who underwent neuroimaging. Treatment with vitamin B12 resulted in dramatic improvement in general activity and appetite within 48 to 72 hours followed by return of lost milestones. Tremors resolved in all by 3 to 4 weeks. Nutritional vitamin B12 deficiency is a treatable cause of neurologic dysfunction in infants.

Acute movement disorders in children: experience from a developing country.

We describe acute movement disorders in 92 children, aged 5 days to 15 years, from an Indian tertiary hospital. Eighty-nine children had hyperkinetic movement disorders, with myoclonus in 25, dystonia in 21, choreoathetosis in 19, tremors in 15, and tics in 2. Tetany and tetanus were seen in 5 and 2 children, respectively. Hypokinetic movement disorders included acute parkinsonism in 3 children. Noninflammatory and inflammatory etiology were present in 60 and 32 children, respectively. Benign neonatal sleep myoclonus in 16 and opsoclonus myoclonus syndrome in 7 accounted for the majority of myoclonus cases. Vitamin B12 deficiency in 13 infants was the most common cause of tremors. Rheumatic fever and encephalitis were the most common causes of acute choreoathetosis. Acute dystonia had metabolic etiology in 6 and encephalitis and drugs in 3 each. Psychogenic movement disorders were seen in 4 cases only, although these patients may be underreported.

Aicardi syndrome.

Aicardi syndrome is a rare neurodevelopmental disease characterised by congenital chorioretinal lacunae, corpus callosum dysgenesis, seizures, polymicrogyria, cerebral callosum, chorioretinopathy and electroencephalogram abnormality. We present a case of Aicardi syndrome with callosal hypogenesis in a 4.5-month-old baby who presented with infantile spasms. Ophthalmoscopy revealed chorioretinal lacunae. The clinical and magnetic resonance imaging features were diagnostic of Aicardi syndrome.