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August 1993, Vol 147, No. 8 >
Article | August 1993

Pathological Cases of the Month FREE

Janet M. Miles, MD; Enid Gilbert-Barness, MD
[+] Author Affiliations

Accepted for publication November 4, 1992.

Reprint requests to Department of Pathology, Tampa General Hospital, University of South Florida, Davis Island, Tampa, FL 33606 (Dr Gilbert-Barness).


Am J Dis Child. 1993;147(8):905-906. doi:10.1001/archpedi.1993.02160320107029.
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The patient first presented to her pediatrician at age 2 years with inward turning of her feet. She was fitted with orthopedic shoes. At age 4 years, her parents noticed constant toe walking, frequent falls, and tight heel cords requiring surgical intervention with serial casting. At age 6 years, she was not running as well as other children her age and was referred to a neuromuscular clinic for further evaluation. Her height at that time was 115cm; weight, 21kg. She had widely spaced, slanted eyes; drooping eyelids; and sagging facies. Her mouth tended to remain open, and she had a high arched palate. Neurologic examination revealed generalized hypotonia. The weakness was believed to be more severe in the distal upper extremity and proximal lower extremity. Deep tendon reflexes were absent. Results of sensory examination were normal. She had lordotic posturing when she walked and demonstrated a waddling gait and locking

REFERENCES

1 +
Spiro AJ, Shy GM, Gonatas NK.  Myotubular myopathy . Arch Neurol. 1966;;14:1-14.
2 +
Sher SJ, Rimalovskyi AB, Athanassiades TJ, Aronson SMA.  Familial centronuclear myopathy: a clinical and pathologic study . Neurology . 1967;; 17:727-742.
3 +
McLeod JG, Baker WDeC, Lethlean AK, Shorey CD.  Centronuclear myopathy with autosomal dominant inheritance . J Neurol Sci. 1972;;15:375-387.
4 +
Schochet SS, Zellweger H, lonasescu V, McCormick WF.  Centronuclear myopathy: disease entity or syndrome . J Neurol Sci. 1972;;16:215-228.
5 +
Barth PG, Van Wijngaarden GK, Bethlem J.  X-linked myotubular myopathy with fatal neonatal asphyxia . Neurology . 1975;;25:531-536.
6 +
Dubowitz V. The Floppy Infant . 2nd ed. Oxford, England: Spastics International Medical Publications; 1980;. Clinics in Developmental Medicine, No. (76) .
7 +
Engel WK, Gold GN, Karpati G.  Type I fiber hypotrophy and central nuclei: a rare congenital muscle abnormality with a possible experimental model . Arch Neurol. 1968;;18:435-441.
8 +
Karpati G, Carpenter S, Nelson RF.  Type I muscle fiber atrophy and central nuclei: a rare familial neuromuscular disease . J Neurol Sci. 1970;;10: 489-500.

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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 +
Spiro AJ, Shy GM, Gonatas NK.  Myotubular myopathy . Arch Neurol. 1966;;14:1-14.
2 +
Sher SJ, Rimalovskyi AB, Athanassiades TJ, Aronson SMA.  Familial centronuclear myopathy: a clinical and pathologic study . Neurology . 1967;; 17:727-742.
3 +
McLeod JG, Baker WDeC, Lethlean AK, Shorey CD.  Centronuclear myopathy with autosomal dominant inheritance . J Neurol Sci. 1972;;15:375-387.
4 +
Schochet SS, Zellweger H, lonasescu V, McCormick WF.  Centronuclear myopathy: disease entity or syndrome . J Neurol Sci. 1972;;16:215-228.
5 +
Barth PG, Van Wijngaarden GK, Bethlem J.  X-linked myotubular myopathy with fatal neonatal asphyxia . Neurology . 1975;;25:531-536.
6 +
Dubowitz V. The Floppy Infant . 2nd ed. Oxford, England: Spastics International Medical Publications; 1980;. Clinics in Developmental Medicine, No. (76) .
7 +
Engel WK, Gold GN, Karpati G.  Type I fiber hypotrophy and central nuclei: a rare congenital muscle abnormality with a possible experimental model . Arch Neurol. 1968;;18:435-441.
8 +
Karpati G, Carpenter S, Nelson RF.  Type I muscle fiber atrophy and central nuclei: a rare familial neuromuscular disease . J Neurol Sci. 1970;;10: 489-500.

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