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Case Reports
. 2017 Sep:74:11-14.
doi: 10.1016/j.pediatrneurol.2017.01.026. Epub 2017 Feb 4.

Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet

Megan A Waldrop  1 , Daniel R Boue  2 , Emily Sites  3 , Kevin M Flanigan  4 , Richard Shell  5
Affiliations
Case Reports

Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet

Megan A Waldrop et al. Pediatr Neurol. 2017 Sep.
No abstract available

Keywords: Native American myopathy; Pierre Robin syndrome; congenital fiber type disproportion; congenital myopathy; hypotonia; malignant hyperthermia syndrome.

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Conflict of interest statement

CONFLICTS OF INTEREST

MAW, DRB, ES: none

KMF: Formal Advisor for Audentes Therapeutics and Sarepta Therapeutics and Consultant for PTC Therapeutics

RS: Consultant for AveXis Inc

Figures

Figure 1
Figure 1. Clinical Features
Photographs were taken at 33 months of age. A: note the myopathic facies (ptosis, tented mouth), hypotonia and club feet; B: note the low set ears and micrognathia
Figure 2
Figure 2. Muscle biopsy of the left quadriceps. Images shown were photographed at 200X magnification
A: Hematoxylin and Eosin stain shows increased fiber size variability with scattered rounded smaller than expected fibers for patient age (<10 μm in diameter) alternating with normal-sized to larger than expected fibers for age (up to ~40μm in diameter); the normal fiber size range for patient age is 13 to 19 μm in diameter. B: Gomori Trichrome stain shows no suggestion of any abnormal inclusions, architectural disarray or abnormal structures (rods, cores, caps, or cytoplasmic bodies) and no evidence of any possible increase in subsarcolemmal mitochondria. C: ATPase pH 4.2 stain shows the darker staining type 1 fibers (55% of fibers in this image as quantified using ImageJ software are significantly smaller (hypotrophic appearing) overall, compared to the more normal to hypertrophic type 2 fibers which appear generally up to about twice as large. Notably, the small fibers have retained a polygonal shape and are not angular, consistent with hypoplasia rather than atrophy.
See this image and copyright information in PMC

References

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