Congenital Adrenal Hyperplasia-Associated Encephalopathy: A Case Report
نویسندگان
چکیده
Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders due to deficiencies enzymes involved in steroidogenesis. Clinical manifestations depend on the degree cortisol and aldosterone deficiency. The salt-wasting form can present as medical emergency with severe hyponatremic dehydration, hyperkalemia, polyuria hyperpigmentation. However, recent years, patients CAH presenting acute encephalopathy or encephalopathic episodes have been reported. We report here clinical nueroimaging findings case encephalopathy.
منابع مشابه
a case of congenital lipoid adrenal hyperplasia
lipoid congenital adrenal hyperplasia (lipoid cah), a rare disorder of steroid biosynthesis, is the most severe form of cah. in this disorder the synthesis of glucocorticoids, mineralocorticoids and sex steroids is impaired which result in adrenal failure, severe salt wasting crisis and hyperpigmentation in phenotypical female infants irrespective of genetic sex. in this report, we presented a ...
متن کاملCongenital adrenal hyperplasia with cholestatic jaundice: a case report
Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders, each of which involves a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both. Classic CAH is rare, about 1 case per 16,000 population. However CAH with cholestatic jaundice is extremely rare. A 23 days old boy presented with vomiting, persistent jaundice. He was born at term,...
متن کاملCongenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child
Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 a...
متن کاملA Case of Congenital Lipoid Adrenal Hyperplasia
Lipoid congenital adrenal hyperplasia (lipoid CAH), a rare disorder of steroid biosynthesis, is the most severe form of CAH. In this disorder the synthesis of glucocorticoids, mineralocorticoids and sex steroids is impaired which result in adrenal failure, severe salt wasting crisis and hyperpigmentation in phenotypical female infants irrespective of genetic sex. In this report, we presented a ...
متن کاملCongenital adrenal hyperplasia and enamel hypoplasia: case report.
A female with congenital adrenal hyperplasia and enamel defects involving the permanent maxillary incisors and all canines and premolars received composite veneer splint overlays under general anesthesia. Possible etiological factors involved in the formation of the enamel defects and overall case management is discussed.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Archives in neurology & neuroscience
سال: 2022
ISSN: ['2641-1911']
DOI: https://doi.org/10.33552/ann.2022.12.000797