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The Rett syndrome in males.

¹Department of Psychiatry, Neuropsychiatric Institute and Hospital, University of California, Los Angeles 90024-1759.

Brain & Development

|January 1, 1990

Summary

Rett syndrome, typically affecting females, is presented in two males with similar symptoms including developmental regression and hand-wringing. This highlights the need for broader diagnostic considerations beyond sex-linked assumptions.

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Area of Science:

Neurodevelopmental disorders
Genetics and rare diseases

Background:

Rett syndrome is a rare genetic neurodevelopmental disorder primarily affecting females.
Typical Rett syndrome involves a characteristic pattern of regression and specific motor and cognitive deficits.

Observation:

Two males in their thirties presented with clinical features mimicking typical female Rett syndrome.
Both patients exhibited normal early development followed by regression, motor impairments like dystonia and hand-wringing, and seizures.
Despite severe symptoms, both maintained normal head size and showed no brain atrophy on CT scans, with one patient remaining ambulatory.

Findings:

The cases suggest that Rett syndrome may occur in males, presenting with symptoms indistinguishable from affected females.
Diagnostic challenges arise due to misinterpretation of symptoms like dystonia and hand-wringing, and a tendency to assign vague diagnoses.
Kyphoscoliosis was observed in both patients during adolescence.

Implications:

These findings challenge the sex-limitation assumption in Rett syndrome and advocate for expanded diagnostic criteria.
Increased awareness and accurate diagnosis are crucial for affected males, preventing misdiagnosis with conditions like cerebral palsy.
Further research is needed to understand the incidence and genetic basis of Rett syndrome in males.

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