Asthenia and developmental delay seem at odds with well-defined musculature in this 9-month-old. What Dx do you suspect?
First patient is a 9-month-old boy, in for well-baby visit and new to the practice. You note widespread muscular hypertrophy but mother describes very significant developmental delays,
Born at 43 weeks; prolonged jaundice requiring phototherapy; delayed defecation; noted to be "floppy" post-delivery but was discharged.
Calf muscles are also very well defined. You note that extremities are somewhat edematous and that the skin is dry.
Review of details: Postmature; delayed defecation/constipation; prolonged jaundice; hypotonic muscles; umbilical hernia; open fontanels/delayed closure; large tongue
A. Congenital muscular dystrophy. B. Mucopolysaccharidoses. C. Glycogen storage disease D. Hypothyroidism
Diagnosis: Kocher-Debre-Semelaigne Syndrome
Rare presentation of neonatal hypothyroidism in which there is a diffuse myopathy and pseudohypertrophy.
Hypotonia--Yellow Pallor--Open fontanel--Tongue enlargement--Hernia (umbilical)--Y chromosome-- Rough skin--Oedema--Inactive defecation--Duration (postmature)
Labs indicated low T3, low T4, elevated TSH. Thyroid replacement therapy initiated. Over 6-8 months the muscular pseudo-hypertrophy resolved. Child remained developmentally delayedâ¦the result of a delayed diagnosis.
A 9-month-old boy is seen for a well-child visit. He is new to the practice and presentation is complex; the mother complains of asthenia and delayed development in this infant with apparent muscular hypertrophy. Â Follow Dr John Schneider and his virtual resident and nurse practitioner through history and physical exam; look at the images from the visit. Can you make the diagnosis?Â Â Â ResourcesShaw C, Shaw P. Kocher-Debre-Semelaigne syndrome: hypothyroid muscular pseudohypertrophy-a rare report of two cases. Case Rep Endocrinol. 2012;2012:153143. doi: 10.1155/2012/153143. Epub 2012 Mar 12.Â http://www.ncbi.nlm.nih.gov/pubmed/?term=10.1155%2F2012%2F153143Sindoni A, Rodolico C, Pappalardo MA, Portaro S, Benvenga S. Hypothyroid myopathy: A peculiar clinical presentation of thyroid failure. Review of the literature. Rev Endocr Metab Disord. 2016 May 7. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/27154040Mishra D, Juneja M. Kocher-Debre-Semelaigne syndrome.Â J Pediatr Neurosci. 2014;9:289-90. doi: 10.4103/1817-1745.147570. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302559/Tewari VV, Mehta R, Tewari K. Kocher-Debre-Semelaigne syndrome: response to thyroxine replacement therapy. Internat J Clin Endocrin Metab. 2016:2:5-7. Published on 10 June, 2016 http://www.peertechz.com/Clinical-Endocrinology-Metabolism/ [see first article]