Chronic polyradiculoneuropathy of infancy

Abstract

Two siblings and a third child exhibited a syndrome of progressive muscular weakness and wasting, closely resembling Werdnig-Hoffmann's disease. Autopsy of one of the siblings and the third child showed nearly total absence of myelin sheaths in the cranial and spinal nerve roots, relative preservation of axons, and normal neurons in the motor cranial nerve nuclei and anterior spinal gray matter. The mother of the siblings had bilateral pes cavus, and the father of the third child had a sensory-motor polyneuropathy dating to childhood, associated with pes cavus and scoliosis. The disorder in these children and in a few similar cases in the literature shares some features of Charcot-Marie-Tooth disease and the hypertrophic neuropathy of Dejerine-Sottas, but it is difficult to classify as either of these familial neuropathies as presently defined. Elevation of cerebrospinal fluid protein is a useful finding in distinguishing such children from patients with Werdnig-Hoffmann's disease.

Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo‐obstruction: POLIP syndrome

“…To the best of our knowledge, this disorder does not fit into the known classification of hereditary sensorimotor polyneuropathies, though it appears to share some features with Dejerine-Sottas disease (hereditary motor and sensory neuropathy, type I11 [HMSN-111)) and Charcot-Marie-Tooth disease (HMSN-I), but without onion-bulb formation. Neuropathologically, the disorder in our patients most closely resembled the chronic polyradiculoneuropathy of infancy described by Kasman and colleagues [28), and-to a lesser extent-the rapidly progressive congenital hypomyelinating neuropathies described by Karch and Urich 1231…”

Demyelinating prenatal and infantile developmental neuropathies

“…Less severe cases present in infancy with hypotonia and motor delay ( Phillips et al, 1999 ; McMillan et al, 2010 ) . Complete absence of peripheral nerve myelination does not always predict prenatal or neonatal onset, or early demise, and survival into adulthood is documented ( Kasman et al, 1976 ; Smit et al, 2008 ) . Hence the discrepancy between biopsy findings and clinical features, as well as overlap in genetic causation, makes the distinction between CHN and DSD of limited utility in the diagnosis and management of these patients, particularly in the era of genetic testing in which nerve biopsy may not be required (Fig.…”

Congenital hypomyelinating neuropathy.

“…In the first group, the children died in early infancy or early childhood while the second group, although severely handicapped, survived. Lack of evidence for an active myelin breakdown, preservation of axons, and absence of a well formed Schwannian onion bulb and a demyelination-remyelination process, suggested that the cases of congenital hypomyelinating [7][8][9] in/sec of right ulnar nerve neuropathy were different from typical Dejerine-Sottas disease. Based on these observations, it has been hypothesised that in congenital hypomyelinating neuropathy, there is a primary hypomyelination of peripheral nerves secondary to a defect in the Schwann cells.4 This is in contrast to the demyelination which occurs in Dejerine-Sottas disease.…”