Rare X-linked Genetic Disorder Research Articles

Modes and patterns of self-mutilation in persons with Lesch-Nyhan disease.

Lesch-Nyhan disease (LND) is a rare X-linked recessive genetic disorder associated with cognitive impairment, choreoathetosis, hyperuricemia, and the hallmark symptom of severe and involuntary self-mutilation. This study examines data gathered from a survey of 64 families in the USA and abroad regarding the self-injury of their family members who have LND. The individuals with LND ranged in age from 1 to 40 years (mean 16 years 7 months, SD 11 years 2 months) and, with the exception of one, were males. The most common initial mode of self-mutilation, and the most frequently cited past or current behavior, was biting of lips and/or fingers. Other behaviors, in order of frequency, included head banging, extension of arms when being wheeled through doorways, tipping of wheelchairs, eye-poking, fingers in wheelchair spokes, and rubbing behaviors. Hierarchical cluster analysis identified patterns of association among the types of self-mutilation. Modes of self-mutilation in which external surfaces (such as a wheelchair component) served as instruments of self-injury tended to co-occur, as did biting of lips and fingers.

Aicardi syndrome: review and MRI findings of an unusual case associated with retrobulbar colobomatous cyst and band heterotopia

Aicardi syndrome is a rare X-linked dominant genetic disorder, which is characterized by infantile spasms, chorioretinal lacunae, mental retardation, and agenesis or hypogenesis of the corpus callosum. We present MRI findings of a 3-year-old female patient that reveal very rarely observed associated findings of retinal colobomatous cyst and band heterotopia in addition to the classical clinical and neuroimaging findings of Aicardi syndrome.

Nephrogenic Diabetes Insipidus Associated with Foscarnet Treatment of Cytomegalovirus Retinitis

Excerpt Nephrogenic diabetes insipidus occurs both as a rare X-linked genetic disorder and, more commonly, as a complication of therapy with lithium carbonate and various other drugs (1). We report...