منابع مشابه
Leigh Syndrome: An Unusual Rare Case Report
Leigh syndrome is a rare inherited neurometabolic subacute necrotizing encephalopathy mostly involving brainstem and basal ganglia, seen in the early childhood. It is characterized by progressive loss of mental and movement abilities associated with abnormal muscle tone, weakness, visual loss and respiratory failure. There is no effective treatment for this condition, as such the prognosis of t...
متن کاملA rare mitochondrial disorder: Leigh sydrome - a case report
Leigh syndrome is a rare progressive neurodegenerative, mitochondrial disorder of childhood with only a few cases documented from India. The clinical presentation of Leigh syndrome is highly variable. However, in most cases it presents as a progressive neurological disease with motor and intellectual developmental delay and signs and symptoms of brain stem and/or basal ganglia involvement. Rais...
متن کاملPrepubertal Diagnosis of Klinefelter Syndrome: A Rare Case Report
Klinefelter syndrome is characterised by advancing testicular function deterioration causing aspermatogenesis and androgen deficiency. Klinefelter patients characteristically have complete male sex differentiation, and genital anomalies are infrequently associated. Penoscrotal malformations at birth are very rare in this syndrome. Nonetheless, it is important to know the association, as one of...
متن کاملWarkany Syndrome: A Rare Case Report
Warkany syndrome 2 or Trisomy 8 mosaicism (T8M) is a well-described, but very rare, chromosomal abnormality. The phenotype is extremely variable ranging from normal individual to severe malformation syndrome and because of this variability, this condition often goes undiagnosed. We report trisomy 8 mosaicism (T8M) in a 3-year-old boy evaluated for facial dysmorphism and delayed development.
متن کاملA rare case report: SCARF syndrome
KEY CLINICAL MESSAGE SCARF syndrome is a very rare syndrome that so far only two cases have been reported in the papers. In this article, a 3-month-old female who exhibited SCARF syndrome presented with multiple congenital abnormalities and problems at Imam Hossein hospital of Shahroud.
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: Indian Journal of Pharmacy Practice
سال: 2019
ISSN: 0974-8326
DOI: 10.5530/ijopp.12.4.59