Hypergalactosemia in early infancy: diagnostic strategy with an emphasis on imaging

Pediatr Int. 2009 Apr;51(2):276-82. doi: 10.1111/j.1442-200X.2008.02692.x.


Background: Portosystemic shunt is one of the main causes of persistent hypergalactosemia without enzyme deficiency, but the diagnostic imaging strategy has not yet been established. The purpose of the present study was to establish a diagnostic imaging strategy.

Methods: A retrospective investigation of the clinical and imaging findings of 10 children with persistent hypergalactosemia without enzyme deficiency detected by screening was undertaken.

Results: Abnormal ultrasonography (US) findings were detected in all eight patients with liver disorders. In three patients with citrin deficiency, the combination of fatty liver on US and laboratory evidence of cholestasis led to the diagnosis. In three patients with portosystemic shunt, US on sedation clearly depicted the shunt vessels. The extent was more easily understood on contrast computed tomography (CT). Per-rectal portal scintigraphy with N-isopropyl-p-I-123 iodoamphetamine and lung perfusion scintigraphy with (99m)Tc macroaggregated albumin were useful for evaluation of portal shunt index and assessment of pulmonary arteriovenous shunt. One patient underwent transarterial coil embolization. In two patients with hepatic tumor, the lesions and its vascularity were clearly demonstrated on US and dynamic CT. In one patient, small shunt index on per-rectal portal scintigraphy suggested no need for treatment. The other patient was treated with a combination of steroid, radiation, and interventional radiology. The etiology remained unknown in two children.

Conclusions: In the assessment of hypergalactosemia, US is the modality of choice. CT is a useful tool for more detailed evaluation of the abnormalities found on US. Per-rectal portal scintigraphy and pulmonary perfusion scintigraphy play an important role in the evaluation of portosystemic shunt. Interventional radiology is sometimes effective.

MeSH terms

  • Citrullinemia / complications
  • Citrullinemia / epidemiology
  • Diagnostic Imaging*
  • Embolization, Therapeutic
  • Fatty Liver / epidemiology
  • Galactosemias / diagnosis*
  • Galactosemias / etiology
  • Humans
  • Lung / diagnostic imaging
  • Magnetic Resonance Imaging
  • Portasystemic Shunt, Surgical
  • Radiography, Interventional
  • Radionuclide Imaging
  • Retrospective Studies
  • Tomography, X-Ray Computed