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June 1982, Vol 136, No. 6 >
Article | June 1982

Radiological Case of the Month FREE

Vladimir M. Berginer, MD; Julia Berginer, MD; Jacob Bar-Ziv, MD; Lionel W. Young, MD
[+] Author Affiliations

Reprint requests to Department of Radiology, Children's Hospital of Pittsburgh, 125 DeSoto St, Pittsburgh, PA 15213 (Dr L. W. Young).


Am J Dis Child. 1982;136(6):551-552. doi:10.1001/archpedi.1982.03970420075017.
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A 14-year-old mentally retarded girl (average mental age, 5 years) attended a special school. Her parents were healthy and were first-degree cousins. She had developed more slowly than normal and had started to talk at the age of two years. Her walking was never steady. She suffered repeatedly from febrile convulsions until the age of 11 years. She had cataracts in both eyes that were removed when she was 7 years old.

Her face was elongated with the mouth kept slightly open, but her tongue was normal in size. Her cranial nerves were normal. Her limbs were hypotrophic and hypotonic and her tendon reflexes were exaggerated. The Achilles tendons at each of her heels were enlarged, and bilateral pes cavus was noted. There was mild ataxia with unstable gait and stance. Dysarthria was present. Her sensory function was normal. Blood counts and liver function test results were normal, as were

REFERENCES

1 +
Van Bogaert L, Scherer HJ, Epstein E: Une forme cerebrale de cholesterinose generalisee . Paris, Mason et Cie, 1937;.
2 +
Menkes JH, Schimschock JR, Swanson PD:  Cerebrotendinous xanthomatosis: The storage of cholestanol within the nervous system . Arch Neurol 1969;;19:47-53.
3 +
Salen G:  Cholestanol deposition in cerebrotendinous xanthomatosis . Ann Intern Med 1971;; 75:843-851.
4 +
Kuritzky A, Berginer VM, Korczyn AD:  Peripheral neuropathy in cerebrotendinous xanthomatosis . Neurology 1979;;29:880-881.
5 +
Yaghmai I:  Intra- and extraosseous xanthomata associated with hyperlipidemia Radiology 1978;;128:49-54.
6 +
Pastershank SP, Yip S, Sodhi HS:  Cerebrotendinous xanthomatosis . J Can Assoc Radiol 1974;;25:282-286.
7 +
Salen G, Meriwether TW, Nicolan G:  Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous xanthomatosis . Biochem Med 1975;;14:57-74.

Figures

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Interactive Graphics

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

References

1 +
Van Bogaert L, Scherer HJ, Epstein E: Une forme cerebrale de cholesterinose generalisee . Paris, Mason et Cie, 1937;.
2 +
Menkes JH, Schimschock JR, Swanson PD:  Cerebrotendinous xanthomatosis: The storage of cholestanol within the nervous system . Arch Neurol 1969;;19:47-53.
3 +
Salen G:  Cholestanol deposition in cerebrotendinous xanthomatosis . Ann Intern Med 1971;; 75:843-851.
4 +
Kuritzky A, Berginer VM, Korczyn AD:  Peripheral neuropathy in cerebrotendinous xanthomatosis . Neurology 1979;;29:880-881.
5 +
Yaghmai I:  Intra- and extraosseous xanthomata associated with hyperlipidemia Radiology 1978;;128:49-54.
6 +
Pastershank SP, Yip S, Sodhi HS:  Cerebrotendinous xanthomatosis . J Can Assoc Radiol 1974;;25:282-286.
7 +
Salen G, Meriwether TW, Nicolan G:  Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous xanthomatosis . Biochem Med 1975;;14:57-74.

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