Match each clinical presentation of a pediatric lysosomal storage disorder with the most likely underlying enzyme deficiency.
- A 9-month-old infant exhibits developmental regression, an exaggerated startle reflex to loud noises, and a cherry-red spot on the macula without hepatosplenomegaly.Hexosaminidase A
- A 4-year-old child presents with severe bone pain, easy bruising, marked hepatosplenomegaly, and pancytopenia. Biopsy demonstrates macrophages with a wrinkled tissue paper appearance.Beta-glucocerebrosidase
- A 6-month-old infant develops progressive developmental delay, absent reflexes, and optic atrophy. Brain biopsy demonstrates multinucleated globoid cells.Galactocerebrosidase
- A 14-year-old boy experiences episodes of severe burning pain in his hands and feet, decreased sweating, and small non-blanching red macules on his lower abdomen.Alpha-galactosidase A
Cevap
The infant with a cherry-red macula and no hepatosplenomegaly matches Hexosaminidase A; the child with hepatosplenomegaly and bone pain matches Beta-glucocerebrosidase; the infant with globoid cells matches Galactocerebrosidase; and the boy with angiokeratomas and neuropathic pain matches Alpha-galactosidase A.
Each clinical vignette provides classic pathognomonic findings for specific lysosomal storage disorders. Tay-Sachs is identified by the exaggerated startle reflex and isolated cherry-red macula (Hexosaminidase A). Gaucher is identified by prominent bone involvement, cytopenias, and tissue-paper macrophages (Beta-glucocerebrosidase). Krabbe is identified by severe demyelination and globoid cells (Galactocerebrosidase). Fabry is uniquely identified by angiokeratomas, hypohidrosis, and neuropathic pain (Alpha-galactosidase A).
Adım Adım Çözüm
Anahtar Kavram
Lysosomal storage diseases can be differentiated by their specific clinical manifestations, histological findings, and underlying enzyme deficiencies.