Other causes of acute encephalopathy include: • Glutaric aciduria type II, a multiple acyl-CoA dehydrogenase deficiency caused by a defect in the mitochondrial electron transfer system (OMIM 231680) • Proprionic acidemia • Methylmalonic aciduria: discussed above with the branched-chain AA •...
Macrocephaly refers to ahead circumference that is larger than normal and may be caused by a large number of diseases including hydrocephalus. Common causes of hydrocephalus in neonates are post-hemorrhagic hydrocephalus, congenital or neonatal infections, and morphological brain abnormalities such as ...
The review provides a practical approach to delineate causes of macrocephaly and finger changes, facilitate differential diagnosis and guide for the appropriate etiological framework. Early recognition contributes to timely intervention and improved outcomes for affected individuals.International Journal of ...
Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a leukodystrophy characterized by early-onset macrocephaly and delayed-onset neurologic.....
The identified de novo mutations also include one in-frame deletion of one amino acid (p.Gly1109del) and two truncating mutations (p.Glu457* and p.Phe1935Glufs*108), although the latter causes a frameshift at the very end of the protein, leading to a stop codon after 108 amino acids....
Germline disruption of Pten localization causes enhanced sex-dependent social motivation and increased glial production. PTEN Hamartoma Tumor Syndrome (PHTS) is an autosomal-dominant genetic condition underlying a subset of autism spectrum disorder (ASD) with macrocephaly. Ca... K Amanda,Tilot,K Mary...
Other causes are related to postoperative ventriculoperitoneal shunting or leakage from a posterior fossa decompression site, with decreased intracranial pressure and dynamic shifts of brain structures leading to rupture of bridging veins. Because of the relatively large volume of the skull, the subdural...
Megalencephaly refers to a true overgrowth of brain parenchyma greater than the 98th percentile of brain weight/volume ratio, which in turn increases HC to a degree that causes macrocephaly. Less frequently, syndromes associated with overgrowth of the actual cranial bones can lead to increased HC...
GLRB itself does not seem to be a good candidate as it causes autosomal recessive hyperekplexia and no symptoms were found in the patient. Mutations of GRIA2 have not been described as cause of ID to date. Nonetheless, it is a very......
Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant: A pathogenic variant in NLRP3 causes CINCA/NOMIDautoinflammatory diseaseCINCANOMIDnon‐accidental traumasubdural hemorrhageSubdural hemorrhages (SDHs) in children are most often observed in abusive head trauma (AHT), a ...