Le syndrome de Schimmelpenning et IRM

Le syndrome de Schimmelpenning est un syndrome du naevus épidermique

Le syndrome du naevus épidermique, ou syndrome de Solomon, est composé de plusieurs entités dont le point commun génétique est le mosaïcisme.

Il comprend :

  1. le syndrome proteus,
  2. le CHILD syndrome (congenital hemidysplasia with ictyosiform erythroderma and limb defect),
  3. le syndrome du naevus comédonien,
  4. le syndrome du naevus de Becker
  5. le syndrome de Schimmelpenning.
  6. angora hair nevus syndrome
  7. Type 2 segmental Cowden disease
  8. FGFR3 epidermal nevus syndrome
  9. la phacomatose pigmentokératosique

syndrome de Schimmelpenning

The disorder consists of a triad of linear sebaceous nevus, seizures and mental retardation

syndrome de Schimmelpenning et IRM

[1] Neuroimaging findings in SFM syndrome include the primary lesions: Malformations of cortical development like hemimegalencephaly, polymicrogyria; gliomatosis, hemiatrophy with or without parenchymal cysts, vascular malformations and intracranial/intraspinal lipomas and secondary features: Porencephaly, infarcts and atrophy. [2] Other rare findings include enlarged ventricles, cortical hypoplasia, intracerebral calcification, arachnoid cysts, intracranial tumors and skull asymmetry. [3] CNS complications are more likely to be associated with epidermal nevi on the head and the CNS abnormalities are most often ipsilateral to the skin lesions. [4] Though hemiatrophy has been reported before in SFM, parenchymal cysts in brain have rarely been reported in SFM syndrome. There is mention of porencephalic cysts in the literature. [4] but no report of parenchymal cysts like the ones seen in our case.

Parenchymal brain cysts in Schimmelpenning-Feuerstein-Mims syndrome

 

Spinal AVM with Schimmelpenning syndrome

Cerebral manifestations, hemihypertrophy and lymphoedema of one leg in a child with epidermal nevus syndrome (Schimmelpenning-Feuerstein-Mims)

Schimmelpenning Syndrome: A Kind of Craniofacial
Epidermal Nevus Associated with Cerebral and Ocular
MR Imaging Abnormalities

Le syndrome de Schimmelpenning-Feuerstein-Mims : à propos d’un cas

http://www.em-consulte.com/en/article/854405