ABSTRACT
Early infantile epileptic encephalopathy (EIEE) is a severe form neurological disorder of age-related epileptic encephalopathy. Characteristically, it presents with tonic spasms within the first 3 months of life. The spasms can be generalized or focal and hemi-convulsions, it can be in clusters or singly which occur hundreds of times per day, not related to sleep cycle, leading to psychomotor impairment and death. Some cases of EIEE are due to metabolic disorders or brain malformations that may or not be genetic in origin. The genetic origin of EIEE are usually related to brain dysgenesis or neuronal dysfunction. Early infantile epileptic encephalopathy-39 (EIEE39) is a result of homozygous mutation in the SLC25A12 gene (603667) on chromosome 2q31. Here it was described a homozygous nonsense variant of the SLC25A12 gene in our 7 years old child, which was not reported in the literature so far.
Subject(s)
Codon, Nonsense , Mitochondrial Membrane Transport Proteins/genetics , Spasms, Infantile/genetics , Anticonvulsants/therapeutic use , Child , Chromosomes, Human, Pair 2 , Consanguinity , Female , Homozygote , Humans , Magnetic Resonance Imaging , Spasms, Infantile/diagnostic imaging , Spasms, Infantile/drug therapyABSTRACT
Chédiak-Higashi syndrome (CHS) is a rare disorder of immune deficiency with autosomal recessive inheritance. Over the past 20â years, â¼500 cases were published worldwide. The mean age of onset is 5-6â years. We report here a case of CHS in a boy aged 2½â years who presented to us with pneumonia which turned to be Chédiak-Higashi syndrome with a novel variant, not previously described in the literature, which is caused by mutations in the CHS1 gene.This case is reported for its novel mutation, and the absence of the accelerated phase until now. Awareness, early recognition and management of this condition may prevent the preterm morbidity associated with this case.
