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Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive
K H Orstavik1, P Strømme, J Ek
1Department of Medical Genetics, Ullevål Hospital, Oslo, Norway.
Insights
This study describes two sisters with macrocephaly, epilepsy, and developmental delays. Their unique symptoms suggest a potential new genetic disorder, possibly autosomal recessive.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Macrocephaly, epilepsy, and severe mental retardation are significant developmental challenges.
- Identifying the genetic basis of rare neurological disorders is crucial for diagnosis and treatment.
Observation:
- Two sisters presented with postnatal macrocephaly, epilepsy, psychomotor delay, and autistic features.
- Mild dysmorphic facial features were noted in both affected individuals.
- One sister also had celiac disease and died at age five, with necropsy revealing megalencephaly.
Findings:
- The clinical presentation in these siblings does not align with any currently recognized syndrome.
- The pattern of inheritance and symptoms suggests a novel autosomal recessive disorder.
Implications:
- This case report may represent a previously undescribed genetic condition.
- Further research is needed to identify the specific gene mutation and understand the disorder's pathogenesis.
- Recognition of this syndrome could aid in earlier diagnosis and management for affected families.
Abstract:
We report two sisters with macrocephaly, epilepsy, and severe mental retardation. The first child was a 14 year old girl born at term after a normal pregnancy, with birth weight 3600 g and occipitofrontal circumference (OFC) 36 cm (75th centile). Her head size increased markedly during the first six months of life, and was later stable at 2-3 cm above the 97.5th centile. Her development was characterised by psychomotor delay, epilepsy, and autistic features. Her face appeared mildly dysmorphic with a large forehead, short philtrum, and bushy eyebrows. Her younger sister was also born at term with birth weight 2600 g and OFC 34 cm (25th centile). She also developed postnatal macrocephaly with OFC 2 cm above the 97.5th centile and the same mild dysmorphic facial features as her sister. Her development was also characterised by psychomotor delay, autistic features, and epilepsy. In addition, she suffered from coeliac disease. She died unexpectedly at the age of 5 years, probably from an epileptic attack. Necropsy confirmed megalencephaly but no other pathological changes were found. The clinical features in these two sisters do not fit with any known syndrome and may represent a previously unrecognised autosomal recessive disorder.