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Biomedical subjects

T E Herman

Publications and source records attributed to T E Herman.

At least 145 records · Page 8Linked to original sources

Neonatal mucolipidosis II (I-cell disease) with dysharmonic epiphyseal ossification and butterfly vertebral body.

I-cell (mucolipidosis 2) is a rare, autosomal recessive neurodegenerative lysosomal storage disease. Neonatal skeletal radiographs are distinctive; a transient osteopathy that has features resembling hyperparathyroidism and rickets is present during the first year of life. The case of a 3-week old infant with I-cell disease is presented. Additional radiographic findings in this case include a butterfly vertebral body and dysharmonic epiphyseal ossification.

Diagnosis, Differential↗

Large torsed neonatal ovarian cysts associated with massive vesicoureteral and intrarenal reflux.

The cases of two infants with large neonatal ovarian cysts complicated by salpingotorsion are reported. Both had persistent hydronephrosis after resolution of the ovarian cyst. Voiding cystourethrography in each child demonstrated massive vesicoureteral reflux with intrarenal reflux. The potential significance of this association and its possible cause are discussed.

Diagnosis, Differential↗