Rett syndrome--two case reports.
نویسندگان
چکیده
Two cases of girls seen in Sarawak with the diagnosis of Rett Syndrome are reported. Their ages were 6 and 2 years respectively at the time of the report. Diagnosis is made clinically as there is as yet no scientific marker. Specific diagnostic criteria were met. There was a history of slowing of development followed by loss of previously acquired skills, changes in emotional development and behaviour and the definite emergency of stereotyped behaviour especially hand wringing in both girls. Onset was early in both girls, around nine months. Both girls are profoundly retarded mentally but the regression appeared to be static at present.
منابع مشابه
Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...
متن کاملTwo Case Reports of Netherton Syndrome: Hair Shaft Examination Is Known As a Diagnostic Test
Background: Netherton syndrome is a rare autosomal recessive disorder consisting of ichthyosiform dermatosis, hair shaft abnormalities and an atopic diathesis that presents as widespread erythematous skin. The aim of these reports is emphasis on the importance of the examination of hair as a diagnose route. Case presentation: Case 1: A 6 months old boy with respiratory distress and severe eryth...
متن کاملFirst case report of Rett syndrome in the Azeri Turkish population and brief review of the literature
Rett syndrome is a dominant X-linked male-lethal disorder largely caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). Clinical manifestations include neurodevelopmental disorder characterized by early-onset intractable seizures, severe developmental delay, intellectual disability, and abnormal electroencephalograms. Afflicted females show normal development until the ...
متن کاملRecent experience with Rett syndrome at a tertiary care center.
Rett syndrome (RS), a neurological developmental disorder, is one of the commonest causes of cognitive impairment in girls and women. These patients are often initially misdiagnosed as idiopathic mental retardation, cerebral palsy, or autism. Despite several reports from the West, there are very few reports from the Indian population. We present four female children with RS and emphasize the im...
متن کاملKindler Syndrome: 2 Case Reports from India
Kindler syndrome (KS) is a rare autosomal recessive genodermatosis. We report two cases of KS with classical clinical presentations involving skin and mucus membranes. Clinically, both patients had four major features of KS in the form of acral skin blistering, photosensitivity, progressive poikiloderma, and diffuse cutaneous atrophy. Case 1 had associated features in the form of urethral...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- The Medical journal of Malaysia
دوره 46 2 شماره
صفحات -
تاریخ انتشار 1991