Background: Infantile tremor syndrome (ITS) is a nutritional deficiency syndrome, frequently reported from the Indian subcontinent caused by vitamin B12 deficiency. The West syndrome (WS), on the other hand, is a type of epileptic encephalopathy with variable etiology.
Case Series: We present a series of five children who presented with symptoms consistent with ITS and received standard intramuscular vitamin B12 therapy to which good response was observed. All these children were readmitted with WS with a time lag varying from 2 to 12 months. Magnetic resonance imaging brain and metabolic screen were within normal limits. Three out of five patients responded well to adrenocorticotropic hormone (ACTH), remaining two required additional drugs. We hypothesize that WS could have developed after ITS due to developmental desynchronization.
Conclusion: In the Indian scenario, it is particularly important to be aware of appearance of WS after ITS, because of high prevalence of ITS and devastating nature of WS.
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http://dx.doi.org/10.1093/tropej/fmaa014 | DOI Listing |
Indian J Pediatr
January 2025
Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.
Clin Toxicol (Phila)
December 2024
Department of Neuroradiology, Unidade Local de Saúde de Santa Maria, Lisboa, Portugal.
Introduction: Vigabatrin, an anticonvulsant drug used for refractory epilepsy and as first-line treatment for infantile epileptic spasms syndrome, can rarely cause brain abnormalities detectable on magnetic resonance imaging. These complications, potentially related to dose, young age, and concomitant high doses of adrenocorticotropic hormone and/or prednisolone, can lead to neurological symptoms. Upon withdrawal or dose reduction, symptoms and imaging changes tend to resolve.
View Article and Find Full Text PDFJ Neurol
December 2024
Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Background: PNPLA8 is a gene that causes an autosomal recessive mitochondrial disease characterised by microcephaly and intractable epilepsy in infants and cerebellar ataxia and limb weakness in adults. Herein, we report the clinical, muscle pathology, and brain imaging features of an adult patient with new variants of PNPLA8.
Methods: A 27-year-old Chinese woman presented with abnormal gait at age 11, remained amenorrhoeic with an infantile uterus at age 17, and presented with head and limb tremors at age 21.
Can J Neurol Sci
December 2024
Krembil Brain Institute, Toronto, Ontario, Canada.
Background: There is limited information on rare spinocerebellar ataxia (SCA) variants, particularly in the Canadian population. This study aimed to describe the demographic and clinical features of uncommon SCA subtypes in Canada and compare them with international data.
Methods: We conducted a case series and literature review of adult patients with rare SCA subtypes, including SCA5, SCA7, SCA12, SCA14, SCA15, SCA28, SCA34, SCA35 and SCA36.
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