Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: An autopsy study

Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: An autopsy study

Author Manci, E. A. Google Scholar
Martinez, J. E. Google Scholar
Horenstein, M. G. Google Scholar
Gardner, T. M. Google Scholar
Ahmed, A. Google Scholar
Mancao, M. C. Google Scholar
Gremse, D. A. Google Scholar
Gardner, D. M. Google Scholar
Nimityongskul, P. Google Scholar
Maertens, P. Google Scholar
Riddick, L. Google Scholar
Kavamura, Maria Ines Autor UNIFESP Google Scholar
Institution Univ S Alabama
Universidade Federal de São Paulo (UNIFESP)
Abstract Many phenotypic manifestations have been reported in cardiofaciocutaneous (CFC) syndrome, but none, to date, are pathognomonic or obligatory. Previous histopathological studies reported findings in skin and hair; no autopsy studies have been published. We report the clinical and autopsy findings of a 7-year-old boy with severe CFC syndrome and malnutrition of psychosocial origin. Manifestations of CFC, reported previously, included macrocephaly and macrosomia at birth; short stature; hypotonia; global developmental delays; dry, sparse thin curly hair; sparse eyebrows and eyelashes; dilated cerebral ventricles; high cranial vault; bitemporal constriction; supraorbital ridge hypoplasia; hypertelorism; ptosis; exophthalmos; depressed nasal bridge; anteverted nostrils; low-set, posteriorly-rotated, large, thick ears; decayed, dysplastic teeth; strabismus; hyperelastic skin; wrinkled palms; keratosis pilaris atrophicans faciei; ulerythema ophryogenes; hyperkeratosis; gastroesophageal reflux; and tracheobronchomalacia. Additional findings, not previously reported, include islet cell hyperplasia, lymphoid depletion, thymic atrophy and congenital hypertrophy of peripheral nerves with onion bulb formations. Although the islet cell hyperplasia, lymphoid depletion, and thymic atrophy are nonspecific findings that may be associated with either CFC or malnutrition, the onion bulb hypertrophy is specific for a demyelinating-remyelinating neuropathy. These findings implicate congenital peripheral neuropathy in the pathogenesis of the developmental delays, feeding difficulties, respiratory difficulties, ptosis and short stature in this case. Additional studies of other cases of CFC are needed. (c) 2005 Wiley-Liss, Inc.
Keywords cardio-facio-cutaneous
cardiofacio cutaneous
onion bulb formations
peripheral neuropathy
islet cell hyperplasia
thymic atrophy
Language English
Date 2005-08-15
Published in American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 137A, n. 1, p. 1-8, 2005.
ISSN 1552-4825 (Sherpa/Romeo, impact factor)
Publisher Wiley-Blackwell
Extent 1-8
Access rights Open access Open Access
Type Editorial
Web of Science ID WOS:000231009900001

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