Virupaxi Hattiholi

Fulminant Cerebellitis: A Fatal, Clinically Isolated Syndrome

Acute cerebellitis constitutes a clinically isolated syndrome, and is a frequent condition in childhood, with either viral or autoimmune etiologies. The disease is reported to run a variable course, and is usually benign. Acute cerebellitis with cerebellar swelling, hydrocephalus, and brainstem compression is an exceptional but life-threatening condition. We report a 9-year-old boy in whom death resulted from acute fulminant cerebellitis because of brainstem involvement. Serial computed tomography and magnetic resonance imaging demonstrated rapid progression of the disease. The etiologies, clinical course, and therapeutic interventions regarding this potentially life-threatening condition are briefly reviewed.

Manganese Transport Disorder: Novel SLC30A10 Mutations and Early Phenotypes

SLC30A10 mutations cause an autosomal recessive disorder, characterized by hypermanganesaemia, polycythemia, early‐onset dystonia, paraparesis, or late‐onset parkinsonism, and chronic liver disease. This is the first identified inborn error of Mn metabolism in humans, reported in 10 families thus far.

Glutaric aciduria type I: A treatable neurometabolic disorder.

Background and Objectives: Glutaric aciduria Type-I (GA-I) has characteristic clinical and neuroimaging features, which clinches the diagnosis in a majority of patients. However, there have been few case reports on GA-I from India. This study was undertaken to study the clinical presentations, metabolic profile, neuroimaging findings and outcome of patients with GA-I. Study Design: The present study was a retrospective study. Materials and Methods: Retrospective review of charts of patients with a diagnosis of GA-I was carried out from March 2008 to April 2010. The clinical, laboratory and neuroimaging findings were extracted in a predesigned proforma and the data was analyzed. Results: Eleven cases were found to have GA-1. Clinical presentation was quite varied. Follow-up of patients revealed that one patient with macrocephaly as the only clinical finding was developmentally normal. One patient with encephalitis-like illness steadily improved and started walking at 2 years. Two patients were bed ridden and had severe dystonia. One patient died during follow-up. The remaining six patients had dystonia and other abnormal movements, but had attained sitting without support and were not ambulatory. Conclusion: GA-I is not an uncommon disorder and diagnosis can be made easily based on clinical, laboratory investigations and neuroimaging findings. It is one of the treatable metabolic disorders and, if managed appropriately, favorable prognosis can be given.

Predominant Corticospinal Tract Involvement in Early-Onset Krabbe Disease

Krabbe disease has characteristic findings on brain magnetic resonance imaging (MRI) according to age at clinical onset. Knowledge of the characteristic brain MRI findings contributes to rapid and specific diagnosis of Krabbe disease in the proper clinical setting. In the early-onset form of Krabbe disease, the leading imaging findings are signal abnormalities within cerebellar white matter, the deep gray nuclei, parieto-occipital white matter, and corpus callosum, and the pyramidal tract. In late-onset disease, MRI is characterized by signal abnormalities within the pyramidal tract, posterior corpus callosum, and parietooccipital white matter [1]. Although cases of Krabbe diseasewith selective involvement of corticospinal tract only have been reported in adults, case reports of children with predominant involvement of corticospinal tracts have been very few [1-3]. We present the case of a 2-year-old boy with late infantile onset Krabbe disease with proven enzyme deficiency and predominant involvement of corticospinal tracts on MRI as the initial feature without other characteristic features of Krabbe disease.

Acute encephalopathy: A novel presentation of mineralizing microangiopathy of childhood

Sir, We read with interest the article titled “Antiphospholipid syndrome is an important modifiable risk factor of stroke in the young” by Khan.[1] We appreciate the author’s effort and research work. We would like to highlight a few points regarding ocular findings and the role of vitamin D supplementation in antiphospholipid syndrome (APS). Ophthalmic manifestations of APS are transient monocular blindness, branch retinal artery occlusion, central retinal artery, and vein occlusion and choriocapillary occlusion. Iritis, scleritis, keratitis, vitritis, posterior scleritis, retinal detachment, occipital lobe ischemia, and migraine-like disturbance have also been reported.[2] Tugcu et al.[3] reported a case of nonarteritic anterior ischemic optic neuropathy as the presenting manifestation of APS. In our neuroophthalmological clinical practice, we observed a recovered case of stroke in a young person due to APS, presenting with residual permanent homonymous hemianopia. Khan[1] has highlighted the importance of developing a research tool to ameliorate and prevent APS-induced vascular brain damage. Vitamin D deficiency is common among APS patients and it is associated with clinically defined thrombotic event.[4] Hypovitaminosis D may have a complex origin in APS and may be part of a mosaic of factors that contribute to autoimmunity rather than a consequence of chronic disease and treatment. To conclude, the prognostic value of vitamin D deficiency and therapeutic value of supplementation in APS patients should be clarified by prospective studies.

Novel Neuroimaging Finding in Palmitoyl Protein Thioesterase-1-Related Neuronal Ceroid Lipofuscinosis

Palmitoyl protein thioesterase-1 (PPT1)-related neuronal ceroid lipofuscinosis is a type of neuronal ceroid lipofuscinosis caused by a deficiency of the enzyme palmitoyl protein thioesterase-1. Cranial magnetic resonance imaging reveals more severe atrophy in the cerebral hemispheres than in the cerebellum. The basal ganglia and particularly the thalamus demonstrate low signal intensity on T(2)-weighted images from an early age. We present three patients with PPT1-related neuronal ceroid lipofuscinosis who exhibited isolated, symmetric signal changes in the bilateral dentate nucleus as sole early neuroimaging abnormality. Neither cerebral or cerebellar atrophy nor signal changes in the thalamus/basal ganglia were evident. This neuroimaging finding in PPT1-related neuronal ceroid lipofuscinosis was not previously reported.

Clinico-investigative profile of infantile and late-infantile neuronal ceroid lipofuscinoses

Neuronal ceroid lipofuscinosis is a group of progressive neurodegenerative disorders characterized by accumulation of ceroid lipopigment in lysosomes in neurons and other cell types. This study is a retrospective review of charts of patients with a diagnosis of infantile and late-infantile neuronal ceroid lipofuscinosis seen between January 2009 and December 2011. Of the 16 patients, 5 had infantile type and 11 had late-infantile neuronal ceroid lipofuscinosis. Diagnosis was confirmed by appropriate enzyme assay. Clinical presentation was quite varied. Common presenting features included refractory seizures, developmental delay/regression, and abnormal movements. Visual failure was not common in the present case series, and novel neuroimaging finding in the form of isolated dentate nucleus hyperintensities were noted. During follow-up, all patients had a progressive downhill course and one patient died. Prenatal diagnosis could be offered to one family. This study suggests that infantile and late-infantile neuronal ceroid lipofuscinosis is not uncommon in this region of the country and the phenotype may be different.

Normal Neuroimaging in Early-Onset Krabbe Disease

Krabbe disease has characteristic findings on brain magnetic resonance imaging (MRI) according to age of clinical onset. MRI-negative Krabbe disease has not been reported in early-onset cases. We present the serial clinical and MRI of brain findings in a case of early-onset Krabbe disease with proven enzyme deficiency. Despite clinical progression, the MRI findings of the child remained normal over a period of 15 months.

Central nervous system inflammatory demyelinating disorders of childhood.

Background and Objectives: Childhood Central Nervous System (CNS) inflammatory demyelinating disorders (CIDD) are being diagnosed more commonly now. There is ambiguity in the use of different terms in relation to CIDD. Recently, consensus definitions have been proposed so that there is uniformity in studies across the world. The prevalence of these disorders and the spectrum varies from place to place. This study was undertaken to study the clinico-radiological profile and outcome of children with CIDD using the recent consensus definition. Study design: Prospective descriptive study. Materials and Methods: All patients admitted in pediatric ward and pediatric intensive care with neurological symptoms and signs suggestive of CNS inflammatory demyelinating disorders from July 2007–August 2008 were enrolled. The details of clinical presentation, neuroimaging findings, laboratory results, treatment, and outcome were noted and analyzed. Results: Fifteen patients (11 with acute disseminated encephalomyelitis and 4 with clinically isolated syndrome) were diagnosed with CIDD. Clinical presentation was quite varied. Eight patients recovered completely; 4 cases were left with sequelae and 3 patients expired. There were no cases of multiple sclerosis or neuromyelitis optica. Conclusions: CNS inflammatory demyelinating disorders are common illnesses in developing countries because of recurrent infections. Even the spectrum of CIDD is different. Neuroimaging in the form of magnetic resonance imaging is essential for diagnosis.

L-2-Hydroxyglutaric Aciduria: Report of Two Indian Families

L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare type of organic acidemia that has characteristic neurological manifestations including macrocephaly, developmental delay, epilepsy and cerebellar ataxia. Worldwide, few hundred cases of L-2-HGA are reported till date. The authors report the first three cases of L-2-HGA from two Indian families. Pertinent clinical aspects of this rare neurometabolic disorder namely, lack of acute exacerbations, and predisposition to brain tumors, are highlighted. In the present series, all cases had infantile onset of symptoms in the form of global developmental delay, seizures and cerebellar ataxia without extra-pyramidal signs or macrocephaly. One child presented as acute febrile encephalopathy which has not been described as a presenting feature.