The Neuropathology of Propionic Acidemia

Abstract

SUMMARY The neuropathology in two biochemically documented cases of propionic acidemia is presented. While spongiform changes in white matter were seen in the infant who died at 12 days, no such changes were evident in an older patient who died at age 23 months. These findings are compared with other aminoacidemias. RÉSUMÉ Neuropathologie de l'acidémie propionique L'article rapporte la neuropathologie de deux cas bien explorés sur le plan biochimique d'acidémie propionique. Des modifications spongiformes de la matiére blanche ont été observées chez le nourrisson mort à 12 jours mais de telles modifications nétaient pas évidentes chez un sujet plus âgé mort à 23 mois. Ces données sont comparées avec d'autres aminoacidémies. ZUSAMMENFASSUNG Die Neuropathologie der Propionatazidose Es wird die Neuropathologie von zwei biochemisch gesicherten Fällen der Propionatazidose beschrieben. Während bei dem Säugling, der im Alter von 12 Tagen starb, spongiforme Veränderungen in der weißen Substanz gefunden wurden, konnten diese Veränderungen bei dem älteren Patienten, der im Alter von 23 Monaten starb, nicht nachgewiesen werden. Diese Befunde werden mit anderen Aminoazidurien verglichen. RESUMEN Neuropatología de la acidemia propiónica Se presenta la neuropatologia de dos casos bioquímicamente documentados de acidemia propiónica. Mientras que los cambios espongiformes en la substancia blanca se vieron en el lactante que falleció a los 12 dias, tales cambios no eran evidentes en el paciente mayor que murió a los 23 meses. Estos hallazgos se comparan con otras aminoacidemias.

Neuropathological report of propionic acidemia

“…Despite PA having been known for decades, there are few neuropathological reports due to its rarity (Table 3). The main neuropathological features of PA are spongiosis, neuronal loss, vacuolization, appearance of Alzheimer type II astrocytes, demyelination, and astrocytosis caused by hypoxic–ischemic injury, 9,11–14 which were also observed in this case. Vacuolization was only observed around neurons in the gray matter, and this finding is consistent with the previous study 11 .…”

“…Thus, neuropathological research on PA is of great significance for elucidating the mechanisms and treatments. Neuropathological reports of PA cases in the literature are exceedingly rare, and no characteristic neuropathological features have been identified yet 9–14 . Therefore, this report aims to provide an additional piece of pathological information for this rare disease.…”

“…Neuropathological reports of PA cases in the literature are exceedingly rare, and no characteristic neuropathological features have been identified yet. [9][10][11][12][13][14] Therefore, this report aims to provide an additional piece of pathological information for this rare disease.…”

Reversible Diffusion Weighted Imaging Changes in Propionic Acidemia

“…3 Similarly, in other neuropathology reports of patients with propionic acidemia, white matter spongiosis was seen in 4 of 10 cases reported. 3,4,[24][25][26][27] In the case of neonates, the gray-white junction of the temporal cortex and white matter tracts in the brainstem are involved in spongiform degeneration. 3,25,28 In an earlier study of spongiform disorder, 29 a strong link was found between the severity of spongiform changes and reduction in apparent diffusion coefficient values.…”