Introduction:
Glutaric aciduria type I is an autosomal recessive disorder of lysine metabolism due to the defect of the enzyme glutaryl-CoA dehydrogenase. The regression of milestones following an intercurrent infection with disabling dystonia is the common presentation. We report the clinical features, diagnosis, and management of 14 south Indian children with glutaric aciduria type I.
Results:
Males predominated the study (57.1%). The mean age of onset of the symptoms was 8.57 ± 3.57 months. The mean age at the time of diagnosis was 35.21 ± 48.31 months. The history of consanguinity was noted in 57.1%. Development was normal prior to the onset of acute crises in nearly three fourths. Acute crises triggered by infection followed by the regression of milestones was the major presenting feature in 10 children (71.4%). Macrocephaly was another prominent feature in an equal number. Bat's wing appearance (fronto temporal atrophy) was present in all children. Nearly 80% had moderate to severe disability in the form of dystonic movement disorder and spastic quadriparesis.
Conclusion:
Glutaric aciduria type Ihas to be identified and managed early to have a better outcome.
Epilepsia partialis continua (EPC) is a form of focal status epilepticus often refractory to anticonvulsant therapy. A wide range of abnormalities such as inflammatory, vascular, metabolic-toxic, developmental malformations, and neoplasia cause EPC. Linear nevus syndrome with hemimegalencephaly is one of the developmental malformations that can present with EPC.
A
BSTRACT
Varicella infection commonly called chicken pox is a benign self-limiting infection in children. Neurological complications following varicella infection are rare. Cerebral venous sinus thrombosis following varicella infection is very rare. Herewith we report a child who developed transverse and sigmoid sinus thrombosis following chicken pox.
Background:
Cerebral venous sinus thrombosis (CVST) is rare in children, increasingly being recognized of late due to advances in neuroimaging. The aim of the study was to describe the clinical, etiological, and imaging characteristics of CVST and its outcome in children.
Study Design:
A retrospective chart review of children with CVST in a tertiary hospital from January 2011 to December 2020.
Results:
Of the 35 patients enrolled, 26 (74.3%) patients were males. The mean age was 5.03 years with a range of 0.17–12 years. The common presenting symptoms were seizures in 18 (51.4%) followed by headache in 17 (48.6%), fever in 16 (45.7%), and vomiting in 15 (42.9%) children. Superior sagittal sinus was the commonest site of thrombus occlusion in 20 (57%), followed by transverse sinus in 18 (51.4%) patients. Multiple sinus involvement was noticed in one-half of the patients. The risk factors associated with CVST were head and neck infections in 15 (42.9%) children, inherited thrombophilia in 4 (11.6%), head trauma, iron deficiency anemia, leukemia with l-asparaginase therapy, acquired thrombophilia in 3 (8.6%) each, dehydration in 2 (5.7%), and dural arteriovenous fistula in one child. Two children (5.7%) died and one-third of the cohort had a poor outcome.
Conclusions:
Head and neck infections continue to be the common cause of CVST in children. Though mortality is low, CVST is associated with significant morbidity in children.
Urea cycle disorders are rare metabolic disorders that present as encephalopathy with hyperammonemia. Arginase deficiency causing hyperargininemia is one among the urea cycle disorders, which usually presents as spastic diplegia. Hyperammonemic encephalopathy is rare in arginase deficiency. We present a rare case of arginase deficiency presenting as acute encephalopathy in a child.
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