Cranial hemihypertrophy with ipsilateral naevoid streaks, intellectual handicap and epilepsy: a report of two cases
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G P McMullin1, M Super, M A Clarke
1Warrington Health Districts, UK.
Insights
Two children presented with facial swelling, epilepsy, and intellectual disability, but lacked lipomas, challenging a diagnosis of encephalocraniocutaneous lipomatosis syndrome. Their features were compared to related genetic syndromes.
Area of Science:
- Medical Genetics
- Pediatric Neurology
- Dermatology
Background:
- Encephalocraniocutaneous lipomatosis syndrome is a rare congenital disorder.
- It is characterized by facial and cranial abnormalities, neurological deficits, and cutaneous lipomas.
Observation:
- Two pediatric cases presented with unilateral facial swelling, jaw hypertrophy, verrucous pigmented streaks, epilepsy, and severe mental subnormality.
- One case exhibited contralateral hemiplegia and a progressive disease course, while the other had no focal neurological signs and a non-progressive course.
Findings:
- Despite facial features suggestive of encephalocraniocutaneous lipomatosis syndrome, no lipomas were identified in either case.
- Clinical features were compared with related syndromes including nevus unius lateris, Proteus syndrome, and cranial hemihypertrophy.
Implications:
- These cases highlight diagnostic challenges in rare genetic syndromes with overlapping features.
- Further research is needed to clarify the spectrum and diagnostic criteria for encephalocraniocutaneous lipomatosis and related conditions.
Abstract:
Two cases are described which presented with diffuse swelling of one cheek and hypertrophy of the underlying maxilla and mandible. Both children developed verrucous pigmented streaks over the area of swelling, and had epilepsy and severe mental subnormality. One of the children had a contralateral hemiplegia and his condition had a progressive course. The other child had no focal neurological signs and his disease seemed to be non-progressive. Although the facial appearance of both children suggested the diagnosis of encephalocrainiocutaneous lipomatosis syndrome, it was not possible to demonstrate the presence of any lipomata in either case. The literature relating to encephalocraniocutaneous lipomatosis is reviewed, as well as that relating to the syndromes of naevus unius lateris, the Proteus syndrome and the syndrome of cranial hemihypertrophy, and the clinical features of our two cases are compared with the features of these four syndromes.