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There is no known cure for microcephaly. [3] Treatment is symptomatic and supportive. [3] Because some cases of microcephaly and its associated symptoms may be a result of amino acid deficiencies, treatment with amino acids in these cases has been shown to improve symptoms such as seizures and motor function delays. [69]
The treatment of fetal hydantoin syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, oral surgeons, plastic surgeons, neurologists, psychologists, and other healthcare professionals may need to systematically and ...
5,10-Methenyltetrahydrofolate synthetase deficiency (MTHFS deficiency) is a rare neurodevelopmental disorder caused by mutations affecting the MTHFS gene, which encodes the enzyme 5,10-Methenyltetrahydrofolate synthetase. [2] The disease starts at birth or in early infancy and presents with microcephaly, short stature, and developmental delay.
Microcephaly is a characteristic in which the circumference of the head is smaller than normal due to improper development of the brain. It is caused by genetic disorders, infections, radiation, medications or alcohol use during pregnancy. Defects in the growth of the cerebral cortex lead to many of the features associated with microcephaly. [4]
Fetal trimethadione syndrome is characterized by the following major symptoms as a result of the teratogenic characteristics of trimethadione. [2] [6] Cranial and facial abnormalities which include; microcephaly, midfacial flattening, V-shaped eyebrows and a short nose; Cardiovascular abnormalities; Absent kidney and ureter
In industrialized countries up to 8% of HCMV seronegative mothers contract primary HCMV infection during pregnancy, of which roughly 50% will transmit to the fetus. [20] Between 10 and 15% of infected fetuses are then born with symptoms, [5] which may include pneumonia, gastrointestinal, retinal and neurological disease.
[1] [4] Symptoms may include fever, red eyes, joint pain, headache, and a maculopapular rash. [1] [2] [3] Symptoms generally last less than seven days. [2] It has not caused any reported deaths during the initial infection. [4] Mother-to-child transmission during pregnancy can cause microcephaly and other brain malformations in some babies.
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.