Congenital sensory neuropathy

Two infants with sporadic congenital sensory neuropathy are described. The criteria of generalized lack of superficial sensory appreciation, hypotonia, areflexia, together with histological evidence of abnormalities of sensory neural structures in skin and peripheral nerves have been met. No abnormality of motor or autonomic nerves was shown.     

Congenital neuropathy caused by hypomyelination

A 9 year-old girl with congenital hypomyelination neuropathy is reported. Clinical features were delayed motor development, disturbances of gait, deep sensory defect, areflexia and mild distal palsy with claw feet. E.M.G. revealed dramatically diminished motor conduction velocities. C.S.F. protein was normal. Histological examination of the right sural nerve revealed a severe loss of myelinated fibers. On electron microscopy, poorly myelinated and large amyelinated axons were enclosed by normal Schwann cells and surrounded by multiple single or double layered basement membranes which were concentrically arranged in an onion bulb pattern. This case of congenital hypomyelination neuropathy is compared with ten similar cases in the literature.     

Congenital sensory neuropathy with anhidrosis: type IV. Apropos of 2 new cases]

Two new cases of congenital sensory neuropathy (CSN) type IV in brothers aged 10 and 5 years are reported. Features included diffuse lack of response to pain without loss of response to touch, temperature and proprioceptive stimuli. No other neurologic anomalies were found. Both patients had complete anhidrosis. Joint destruction, which was the result of the failure to react to painful stimuli, was the most prominent feature. Nerve biopsy specimens exhibited marked reductions in numbers of amyelinic fibers with normal numbers of myelinic fibers. These two cases of CSN type IV are discussed in the light of previously reported cases and the new classification of congenital sensory neuropathies is reviewed.     

Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis

Congenital cataracts-facial dysmorphism-neuropathy syndrome (CCFDN, MIM: 604168), is a recently delineated neurogenetic disease causing recurrent episodes of rhabdomyolysis; prevention and early diagnosis of rhabdomyolysis should be part of the clinical management of the disease.     

Congenital Fibrosarcoma: A Congenital Fibrous Histiocytoma

Using immunoperoxidase PAP technique in 2 cases of congenital fibrosarcoma, a great number of cells showed positive stain for alpha-l-antitrypsin (A1AT) and alpha-l-antichymotrypsin (A1ACT), both considered to be good histiocytic markers. The ultrastructure in 1 case also provides evidence of histiocytic differentiation. These findings suggest that congenital fibrosarcomas are actually congenital fibrous histiocytomas and may explain the presence of inflammatory infiltrates as in some malignant fibrous histiocytomas.