Spongy degeneration in the white matter of the central nervous system in the newborn: pathological findings in three infants, one with hyperglycinaemia.

Spongy degeneration in the white matter of the central nervous system in the newborn: pathological findings in three infants, one with hyperglycinaemia Infantile spongy degeneration of the white matter of the central nervous system is a rare disorder of unknown pathogenesis. Reported cases have generally been described under the heading of spongy degeneration of van Bogaert and Bertrand type or as Canavan's type of diffuse sclerosis (see van Bogaert and Bertrand, 1967). The clinical and pathological features of the reported cases have been closely similar and a familial occurrence has been established; for these reasons it has been claimed that the disorder is a nosological entity (van Bogaert and Bertrand, 1967). However, a microscopic appearance in the central nervous system closely similar to that of van Bogaert and Bertrand's disease may be seen in association with some amino-acidurias-notably in maple syrup urine disease Pathologically, infantile spongy change is confined to white matter and myelinated grey masses; the vacuolation is usually associated with a considerable degree of myelin poverty, but products of myelin degeneration typical of a demyelinating disorder are not seen. These apparently incompatible findings have given rise to debate as to whether infantile spongy degeneration is primarily a myelin disease or an oedematous process with secondary myelin loss. Severe spongy change of the white matter is described here in three infants who died in the first month of life: two were born prematurely; the third, who was born at term, suffered from hyper-glycinaemia. A number of pathological findings peculiar to the occurrence of the disease at an age when the nervous system is normally actively myelinating provide evidence that infantile spongy degeneration is a primary myelin disorder and indicate that the poverty of myelin is at least in part due to a reduction in the rate of its formation. The brain and spinal cord and samples of other tissues were fixed in 4% formaldehyde in 10% saline. Tissue blocks were embedded in paraffin wax reinforced with 10 %Alston dental wax (Dental Manufacturing Company) and 1 i% beeswax. The usual neuropathological staining techniques for paraffin sections were employed together with Palmgren's method (1948) for nerve fibres and Gallyas's method (1963) for microglia. Frozen sections from selected blocks were stained for myelin with the Kulchitsky-Pal method and the propy-lene glycol Sudan Black B method (Chiffelle and Putt, 1951), for neutral fat with the triethyl phosphate Oil Red 0 method, for microglia …