Unexpected recovery in a newborn with severe hypomyelinating neuropathy.
We report the case of a severely hypotonic and weak term newborn who required ventilatory support from the time of birth. Serial neurophysiologic studies were consistent with severe demyelinating polyneuropathy. The infant's condition deteriorated over several weeks despite treatment with corticosteroids and intravenous immunoglobulin (IVIG) for presumed inflammatory demyelinating polyneuropathy. Histopathologic findings in a sural nerve biopsy, however, were similar to those previously reported in congenital hypomyelinating neuropathies. After 12 weeks of hospitalization and after discontinuation of corticosteroids, the patient began to recover and required no further ventilatory support. Remarkable improvement has continued for 18 months. This patient raises questions about the underlying mechanisms of hypomyelinating neuropathies in early infancy.
Levy
B K
BK
Department of Neurology, St. Louis University School of Medicine, Missouri, USA.
Fenton
G A
GA
Loaiza
S
S
Hayat
G R
GR
D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D001706:Biopsy; D003711:Demyelinating Diseases / Q000473:pathology / Q000503:physiopathology* / Q000628:therapy; D005260:Female; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000473:pathology / Q000503:physiopathology* / Q000628:therapy; D010523:Peripheral Nervous System Diseases / Q000473:pathology / Q000503:physiopathology* / Q000628:therapy; D012075:Remission, Spontaneous; D013497:Sural Nerve / Q000473:pathology
D000305:Adrenal Cortex Hormones; D016756:Immunoglobulins, Intravenous