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Microcephaly generally is due to the diminished size of the largest part of the human brain, the cerebral cortex, and the condition can arise during embryonic and fetal development due to insufficient neural stem cell proliferation, impaired or premature neurogenesis, the death of neural stem cells or neurons, or a combination of these factors ...
Treatment anti-epileptics Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (often referred to by its acronym SPATCCM ) is a rare autosomal recessive disease caused by mutations in the SLC1A4 gene encoding the ASCT1 protein.
In order to restore dopamine levels in the central nervous system, patients are given L-dopa in conjunction with an inhibitor of aromatic amino acid decarboxylase that acts outside the nervous system, so as to promote the transformation of L-dopa into dopamine inside the central nervous system, and thus to improve the efficiency of the treatment.
Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) – also known as mental retardation, X-linked, syndromic, Najm type (MRXSNA); X-linked intellectual deficit, Najm type; intellectual developmental disorder, X-linked, syndromic, Najm type; X-linked intellectual disability–microcephaly–pontocerebellar hypoplasia syndrome; and by variations of these terms ...
Loss of function in AKT can cause microcephaly in humans while inactivation of the pathway can cause hemimegalencephaly. [4] There are also several cancers that have been shown to be linked with mutations in the AKT pathway, including melanoma and lung cancer. [4] [16] [17]
The disease spreads from mother to child in the womb and can cause multiple problems, most notably microcephaly, in the baby. The full range of birth defects caused by infection during pregnancy is not known, but they appear to be common, with large-scale abnormalities seen in up to 42% of live births.
Achalasia microcephaly; Chest x-ray of an individual with achalasia. The arrows point to the areas of extreme esophageal dilation. Symptoms: Manifestation of achalasia: regurgitation, vomiting and dysphagia, alongside diagnosis of microcephaly: abnormally small head size below the third percentile as well as mild to moderate mental retardation.
Treatment Immunoglobulin replacement, HSCT [ 1 ] Cernunnos deficiency is a form of combined immunodeficiency characterized by microcephaly , due to mutations in the NHEJ1 gene, it is inherited via autosomal recessive manner [ 2 ] [ 1 ] Management for this condition is antiviral prophylaxis and antibiotic treatment.