Background The pathogenic variation of CASK gene can cause CASK related mental disorders. The main clinical manifestations are microcephaly with pontine and cerebellar hypoplasia, X-linked mental disorders with or without nystagmus and FG syndrome. The main pathogenic mechanism is the loss of function of related protein caused by variant. We reported a Chinese male newborn with a de novo variant in CASK gene. Case presentation We present an 18-day-old baby with growth retardation and brain hypoplasia. Whole-exome sequencing was performed, which detected a hemizygous missense variant c.764G > A of CASK gene. The variant changed the 255th amino acid from Arg to His. Software based bioinformatics analyses were conducted to infer its functional effect. Conclusions In this paper, a de novo variant of CASK gene was reported. Moreover, a detailed description of all the cases described in the literature is reported. CASK variants cause a variety of clinical phenotypes. Its diagnosis is difficult due to the lack of typical clinical symptoms. Genetic testing should be performed as early as possible if this disease is suspected. This case provides an important reference for the diagnosis and treatment of future cases.
Background After the outbreak of COVID-19, many families equip with 75% ethanol to inactivate the SARS-CoV-2, which increases the risk of exposure to ethanol. Case presentation We reported a 25-day-old newborn who was diagnosed with neonatal acute ethanol intoxication with a presenting complaint of accidental consumption about 15 ml formula milk containing 75% ethanol. His main clinical manifestations were irritability, flushed skin, tachycardia, tachypnea, and toxicology analysis detected ethanol. After timely gastric lavage and intravenous fluid replacement, he was cured and discharged. Conclusions During the COVID-19 epidemic, high concentration ethanol used for inactivating SARS-COV-2 should be placed reasonably and neonatal feeding safety should be emphasized. Timely diagnosis and symptomatic treatment are essential for the prevention and management of acute ethanol intoxication in newborns.
Background:The pathogenic variation of CASK gene can cause CASK related mental disorders. The main clinical manifestations are microcephaly with pontine and cerebellar hypoplasia, X-linked mental disorders with or without nystagmus and FG syndrome. The main pathogenic mechanism is the loss of function of related protein caused by mutation. We reported a Chinese male newborn with a de novo variant in CASK gene. Case presentation:We present an 18-day-old baby with intellectual disability and brain hypoplasia. Whole-exome sequencing was performed, which detected a hemizygous missense mutation c.764G>A of CASK gene. The mutation changed the 255th amino acid from Arg to His. Software based bioinformatics analyses were conducted to infer its functional effect.Conclusions:In this paper, a de novo mutation of CASK gene was reported. Moreover, a detailed description of all the cases described in the literature is reported.CASK mutations cause a variety of clinical phenotypes. Its diagnosis is difficult due to the lack of typical clinical symptoms. Genetic testing should be performed as early as possible if this disease is suspected. This case provides an important reference for the diagnosis and treatment of future cases.
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