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Schwachman Syndrome
Joseph Junewick, MD FACR
over 7 years ago
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Case History


11 month old female with vomiting and hematuria.


Case Detail

Anatomy: Genitourinary
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Neoplasia Malignant
Created: over 7 years ago
Updated: over 7 years ago
Tags: PEDS
Modality/Study Types: US CT
Activities:
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Case Images


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Reveal Clinical Notes

Subsequent imaging of the neuroaxis was normal.

Reveal Findings

US – Large heterogeneous mass arising from the left kidney.

CT – Large heterogeneous mass arising from the left kidney.

Reveal Discussion

Rhabdoid tumor of the kidney is a rare aggressive cancer occurring in infancy and early childhood. Initially it was thought to represent a rhabdomyosarcomatoid variant of Wilms’ tumor but subsequently it was confirmed ito be distinct. The exact cell type of derivation remains unknown. Approximately 10% to 15% of patients with rhabdoid tumor also develop CNS lesions and are designated as atypical teratoid-rhabdoid tumors. Both rhabdoid and atypical teratoid-rhabdoid tumors of the CNS are genetically characterized by mutation of the hSNF5/INI1 gene. Survival rates are not more than 20% to 25% but prognosis is worse when diagnosis is made prior to 1 year of age. Imaging features are similar to Wilms tumor; the age of onset however is younger than for most Wilms tumor.

Reveal Diagnosis

Rhabdoid Tumor of the Kidney

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