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Fraser syndrome

An autosomal recessive genetic disease, characterized by developmental defects including underdevelopment of the eyes (crytophthalmos) and the genitals (micropenis, cryptorchidism or clitoromegaly). Congenital malformations of the nose, ears,larynx, and renal system as well as mental retardation are manifest occasionally. The Fraser syndrom is also known as: Meyer-Schwickerath's syndrome, Fraser-Fran├žois syndrome, or Ullrich-Feichtiger syndrome.

The genetic background of this disease has been linked to a gene called FRAS1, which seems to be involved in skin epithelial morphogenesis during early development.

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MRI and MRS of Coffin-Lowry syndrome: A case report
From Neurological Research, 4/1/03 by Patlas, M

MRI and MRS were used to examine the brain and the spine of a Coffin-Lowry syndrome (CLS) patient. There were moderately enlarged lateral and third ventricles and subarachnoid space with prominent Virchow-Robin spaces. MRS of basal ganglia and periventricular white matter was normal. [Neurol Res 2003; 25: 285-286]

Keywords: Coffin-Lowry syndrome; hydrocephalus; Virchow-Robin spaces; MRI; MRS

INTRODUCTION Coffin ef al.1 in 1966 and Lowry ef al.2 in 1971 independently described patients with mental retardation and characteristic facial and skeletal features. The syndrome was mapped on the short arm of the X chromosome (Xp 22.2) by linkage analysis and mutations in the RSK-2 genes were recently identified3.

The syndrome is rare and besides the description of the phenotype some other clinical abnormalities were recently reported: 'cataplexy'4 and late onset sensorineural hearing loss5.

We report on the MRI and MR spectroscopy (MRS) findings in a patient who presented with gradual motor deterioration and drop episodes, which prompted our clinical and diagnostic reevaluation.

CASE REPORT

R.T., a ten-and-a-half-year old boy, was the product of a breech delivery at 37 weeks of gestation, with a birth weight of 215Og to nonconsanguinous parents. From early infancy he was severely hypotonie, had poor sucking and slow weight gain, recurrent upper respiratory tract infections. His face was dysmorphic, with large forehead, hypertelorism, down slanted eyes, wide mouth, thick lips, wide spaced and dysplastic teeth. The limbs were puffy, with lack of deep creases on palms and soles, hyperelastic joints and tapering fingers. The Coffin-Lowry syndrome (CLS) was initially suspected around the age of two years and Fragile X and later Wi I Harris's syndrome were ruled out by genetic studies. His developmental progress was very slow although both physical and occupational therapy were provided early. he started walking at four years of age and at about four and half years, started talking. Around six years of age he presented with a history of frequent falls and over the subsequent two years began walking with support and then stopped walking independently and reverted to crawling. Repeated EEC and video EEGs did not show epileptic activity and an early brain CT scan was reported as normal. Blood tests including complete blood count, electrolytes, muscle and liver enzymes, thyroid function tests were normal and eiectrophysiological studies including EMG and NCV were normal too. Initially the family refused to perform an MRI but finally consented due to the incessant falls and loss of independent ambulation.

MRI of the brain showed moderately enlarged lateral and third ventricles with a small corpus callosum (Figure 7), and enlarged subarachnoid space with prominent periventricular Virchow-Robin spaces (Figure 2). MRS of basal ganglia and periventricular white matter was normal (Figure 3). MRI of the spine revealed prominent scoliosis.

DISCUSSION

We found one previous single case report on the brain MRI finding of Coffin-Lowry syndrome6. Small perivascular focal areas of hypointensity in the white matter on Tl weighted images, dilatation of the lateral ventricles and hypoplasia of the splenium were noted.

Other lesions with predilection for the Virchow-Robin spaces include mucopolysaccharidoses (MPS), cryptococcus and sarcoidosis. Cryptococcus and sarcoidosis would be unlikely in infants and children, except for cryptococcus in immunosupressed patients. Prominent periventricular Virchow-Robin spaces in MPS corresponded pathologically to perivascular accumulation of glycosaminoglycans within foam cells in the Virchow-Robin spaces7. However, the facial features and other clinical signs of our patient were quite different from those of MPS patients. MRI of the brain in a Japanese CLS patient also revealed prominent perivascular spaces. The cause of the lesions in our patient and in the case reported by Kondoh ef a/.6 is not known.

The MRI findings in Coffin-Lowry syndrome are not specific. However, in cases with the appropriate clinical findings, the cerebral and spinal MRI findings with a normal cerebral MRS can strengthen the diagnostic specificity.

REFERENCES

1 Coffin GS, Siris E, Wegienka L. Mental retardation with osteocartilaginous anomalies. AmJ Dis Child 1966; 112: 205-213

2 Lowry B, Miller JR, Fraser FC. A new dominant gene mental retardation syndrome: Association with small stature, tapering fingers, characteristic faces and possible hydrocephalus. Am J Dis Child 1971; 121: 496-500

3 Trivier E, de Cesare D, Jacquot S, etal. Mutations in the kinase RSK-2 associated with Coffin Lowry syndrome. Nature 1996; 384: 567-570

4 Crow YJ, Zuberi SM, McWilliam R, et ai. 'Cataplexy' and muscle ultrasound abnormalities in Coffin Lowry syndrome. J Med Genet 1998; 35: 94-98

5 Rosanowski F, Hoppe U, Proschel U, Eysholdt U. Late onset sensorineural hearing loss in Coffin Lowry syndrome. Ostorhinolaryngol Relat Spec 1998; 60: 224-226

6 Kondoh T, Matsumoto T, Ochi M, Sukegawa K, Tsujl Y. New radiological finding by magnetic resonance imaging examination of the brain in Coffin Lowry syndrome. J Hum Genet 1998; 43: 59-61

7 Johnson MA, Desai S, Hugh-Jones K, et al. Magnetic resonance imaging of the brain in Hurler syndrome. AJNR 1984; 5: 816-819

M. Patlas*, A. Joseph[dagger], J.E. Cohen[double dagger] and J.M. Gomori[double dagger]

* Departinent of Radiology, Shaare Zedek Medical Center, Jerusalem

[double dagger] Pediatric Neurology Unit, Ministry of Health, Jerusalem

[double dagger] Department of Radiology, Hadassah University Hospital, Jerusalem, Israel

Correspondence and reprint requests to: J.M. Comori, Department of Radiology, Hadassah University Hospital, PO Box 12000, Jerusalem 91120, Israel, [gomori@md2.huji.ac.il] Accepted for publication November 2002.

Copyright Forefront Publishing Group Apr 2003
Provided by ProQuest Information and Learning Company. All rights Reserved

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