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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical picture of the Schimmelpenning-Feuerstein-Mims (or nevus sebaceus linearis) syndrome is described. The syndrome especially its excessive formes, is a relatively rare, but typical biotype of the neuroectodermal phakomatosis disorders. Symptomes are multiple widespread linear sebaceus nevi, seizures and mental retardation, ECG anomalies and ocular dysplasia and dystrophia, which can cause blindness.
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PMID:[Schimmelpenning-Feuerstein-Mims-syndrome (author's transl)]. 11 1

A case of Feuerstein-Mims syndrome (naevus sebaceous, convulsions and mental retardation) is described in association with vitamin D resistant reckets.
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PMID:Feuerstein and Mims syndrome with resistant rickets. 18 80

Epidermal nevus syndrome is one of the sporadic congenital hamartoses in which neurologic abnormalities have been frequently reported. We report two cases with severe primary brain involvement, seizures, mental retardation, and facial hemihypertrophy. We emphasize the superiority of magnetic resonance imaging over other radiographic studies in outlining the primary central nervous system anomalies associated with this syndrome. Although attempts were made to distinguish between several variants of epidermal nevus syndrome, it is clear that these are one entity. Proteus syndrome, encephalocraniocutaneous lipomatosis, and epidermal nevus syndrome have several overlapping phenotypic features. We suggest that they represent a phenotypic continuum, which in turn suggests a common pathogenetic process. While the cause of these syndromes is unknown, observations point to a somatic mutation leading to variable patterns of mosaicism.
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PMID:Epidermal nevus syndrome: subgroup with neuronal migration defects. 155 48

The epidermal nevus syndrome (ENS) is a sporadic neurocutaneous disorder that consists of epidermal nevi and congenital anomalies involving the brain and other systems. From among over 60 patients with ENS presenting with neurologic manifestations, we identified 17 who had hemimegalencephaly based on pathologic or radiologic studies. Associated brain and neurologic abnormalities included gyral malformations in 12 of 12, mental retardation in 13 of 14, seizures in 16 of 17 (including 9 with infantile spasms), and contralateral hemiparesis in 7 of 12. All had ipsilateral epidermal nevi of the head, and several had ipsilateral facial hemihypertrophy. We concluded that these abnormalities comprise a recognizable neurologic variant of ENS that we believe represents the full expression of primary brain involvement. Several patients also had evidence of acquired brain lesions such as infarcts, atrophy, porencephaly, and calcifications, which are best explained by prior ischemia or hemorrhage. Given repeated observations of blood vessel anomalies in ENS patients, we hypothesize that underlying vascular dysplasia predisposes to these acquired lesions. The same cause may be invoked to explain the wide variety of neurologic symptoms reported in ENS patients without hemimegalencephaly. While the cause of ENS remains unknown, several observations suggest a somatic mutation.
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PMID:Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy. 199 73

A boy with linear sebaceous nevus syndrome was followed up to 3 years of age, at which time he died of pneumonia. The lesions of nevus sebaceus were located in the midline and on both sides of the face, and there were partial colobomata of the right outer canthus continuous with pseudopterygium and of the left upper eyelid. At 2 months of age, the patient developed infantile spasms. At 1 year, electroencephalography revealed hypsarrhythmia, and left carotid angiography showed an arteriovenous malformation. At 2 years, the mental retardation and delayed motor development were detected.
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PMID:Linear sebaceous nevus syndrome. 226 82

The main symptom of the organoid nevus syndrome (Schimmelpenning-Feuerstein-Mims-Syndrom) is the nevus sebaceous, which is mostly linear and can be of variable expression. Malformations of the skeletal system and the eyes are usually associated, while malformations of the cardio-vascular system are less common. Neurological findings such as mental retardation and seizures are of clinical relevance. We describe a case and discuss this rare syndrome.
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PMID:[Organoid nevus syndrome (Schimmelpenning-Feuerstein-Mims syndrome): case report and literature]. 264 38

A 5-year-old boy with the epidermal nevus syndrome and hemimegalencephaly is reported. He had pigmented nevi on the forehead and neck, and hemihypertrophy of the body from the birth. He developed intractable seizures, mental retardation, and right hemiparesis. His seizure pattern changed from early infantile epileptic encephalopathy to infantile spasms at 2 months of age. Electroencephalograms showed a suppression-burst pattern in the neonatal period, subsequently changing to hypsarrhythmia. Computerized tomography of the brain disclosed slight dilatation of the posterior horn of the lateral ventricle at the age of 2 months. Later, hemimegalencephaly with calcification on the left side of the brain was noted. Histological examination of the pigmented nevus on the neck showed it to be an acanthosis nigricans-like lesion. Clinical differences between tuberous sclerosis and epidermal nevus syndrome with hemimegalencephaly are discussed.
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PMID:Epidermal nevus syndrome with hemimegalencephaly: a clinical report of a case with acanthosis nigricans-like nevi on the face and neck, hemimegalencephaly, and hemihypertrophy of the body. 275 Oct 68

We report a patient that fulfills the clinical features of the linear nevus sebaceous syndrome. This syndrome was defined by the triad: Linear nevus sebaceous, seizures and mental retardation. Further descriptions suggested an association with hamartomas of mesenchymal structures and increased risk of neoplasm transformation. Previously reported cases are reviewed. The complexity of classification of this neurocutaneous syndrome is discussed.
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PMID:[Linear sebaceous nevus syndrome]. 332 Jun 21

The linear nevus sebaceous syndrome is a rare disorder first described in 1962 in two cases by Feuerstein and Mims. As originally described, it consisted of the triad of the characteristic midline facial linear nevus sebaceous of Jadassohn, seizures, and mental retardation. The authors have followed a patient with this syndrome from birth to age 8 and although he does demonstrate several neurologic and ocular abnormalities, he enjoys normal intelligence and has never suffered seizures. The features of this syndrome and several new ocular findings demonstrated in this case are described. Based on our long-term follow-up of this patient and our review of the reported cases to date, the authors suggest that the triad for this disorder should be changed to include the midline facial linear nevus sebaceous of Jadassohn, neurologic abnormalities which may, but not necessarily, include seizures and mental retardation, and ophthalmologic abnormalities.
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PMID:Linear nevus sebaceous syndrome. 358 6

The epidermal nevus syndrome is a neurocutaneous disorder characterized by distinctive skin lesions and often serious somatic and central nervous system (CNS) abnormalities. We observed four cases of this disorder with epidermal nevi and neurologic manifestations, including mental retardation, seizures, ophthalmologic abnormalities, intracranial aneurysm, and porencephalic cyst. A review of 60 reported cases of the epidermal syndrome and our experience suggest that CNS complications are more likely to be associated with epidermal nevi on the head and that the CNS abnormalities are most often ipsilateral to the skin lesion.
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PMID:Neurologic complications of the epidermal nevus syndrome. 381 38


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