title: Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study.
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.
authors: Pediatric Pathology, University of South Alabama Children's and Women's Hospital, Mobile, 36604, USA. emanci@usouthal.edu
authors: Elizabeth A
authors: EA
authors: Manci
authors: Jose E
authors: JE
authors: Martinez
authors: Marcelo G
authors: MG
authors: Horenstein
authors: Todd M
authors: TM
authors: Gardner
authors: Arsalan
authors: A
authors: Ahmed
authors: Mary C
authors: MC
authors: Mancao
authors: David A
authors: DA
authors: Gremse
authors: David M
authors: DM
authors: Gardner
authors: Prasit
authors: P
authors: Nimityongskul
authors: Paul
authors: P
authors: Maertens
authors: Leroy
authors: L
authors: Riddick
authors: Maria I
authors: MI
authors: Kavamura
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001344:Autopsy; D002648:Child; D015362:Child Nutrition Disorders / Q000473:pathology*; D005145:Face / Q000002:abnormalities*; D017809:Fatal Outcome; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D007621:Karyotyping; D008297:Male; D010523:Peripheral Nervous System Diseases / Q000151:congenital / Q000473:pathology*; D012868:Skin Abnormalities; D013577:Syndrome