Hypergalactosaemia in a newborn: self-limiting intrahepatic portosystemic venous shunt

Gitzelmann, R; Forster, Ian C.; Willi, Ulrich

doi:10.1007/s004310050698

Cited by 61 publications

(44 citation statements)

References 14 publications

(19 reference statements)

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“…Various imaging modalities and blood tests indicated that the natural histories of intrahepatic and extrahepatic CPSSs differed. Intrahepatic CPSS without hepatic tumor has been reported to spontaneously close or regress, whereas extrahepatic CPSS does not spontaneously regress (3,7,8,(16)(17)(18). Ultrasonography and dynamic contrast-enhanced CT evaluation showed spontaneous reductions in the shunt size in all of our patients with intrahepatic CPSS but in none with extrahepatic CPSS, strengthening the previous findings.…”

Section: Discussionsupporting

confidence: 86%

Role of per-rectal portal scintigraphy in long-term follow-up of congenital portosystemic shunt

et al. 2014

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Background: Congenital portosystemic shunt (CPSS) has the potential to cause hepatic encephalopathy and thus needs long-term follow-up, but an effective follow-up method has not yet been established. We aimed to evaluate the importance of per-rectal portal scintigraphy (PRPS) for long-term follow-up of CPSS. Methods: We retrospectively examined shunt severity time course in patients (median: 9.6 y, range: 5.2-16.6 y) with intrahepatic (n = 3) or extrahepatic (n = 3) CPSS by using blood tests, ultrasonography or computed tomography, and PRPS. Per-rectal portal shunt index (cutoff: 10%) was calculated by PRPS. results: PRPS demonstrated that the initial shunt index was reduced in all intrahepatic cases (from 39.7 ± 9.8% (mean ± SD) to 14.6 ± 4.7%) and all extrahepatic cases (from 46.2 ± 10.9 to 27.5 ± 12.6%) during the follow-up period. However, ultrasonography and computed tomography disclosed different shunt diameter time courses between intrahepatic and extrahepatic CPSSs. Initial shunt diameter (5.8 ± 3.5 mm) reduced to 2.0 ± 0.3 mm in intrahepatic cases, but the initial diameter (6.3 ± 0.7 mm) increased to 10.6 ± 1.0 mm in extrahepatic cases. All patients had elevated serum total bile acid or ammonia levels at initial screening, but these blood parameters were insufficient to assess shunt severity because the values fluctuate. conclusion: PRPS can track changes in the shunt severity of CPSS and is more reliable than ultrasonography and computed tomography in patients with extrahepatic CPSS.

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Section: Discussionsupporting

confidence: 86%

Role of per-rectal portal scintigraphy in long-term follow-up of congenital portosystemic shunt

et al. 2014

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“…Rupture of the portal vein aneurysm is more probable mechanism. Another case was reported of a newborn with a shunt with spontaneous resolve in first year of age (8,13). SIPSVS may be demonstrated in any age of life between 20-day-old and late seventies (3,5,12,14,18,19,20,22,24,26,31).…”

Section: Discussionmentioning

confidence: 96%

“…The diagnosis of intrahepatic portosystemic venous shunts can be established by color Doppler, CT-angiography, MRI or conventional angiography (8,10,25,27,28). Color Doppler imaging demonstrate a direct communication of color flow signals between the portal vein and hepatic vein, in addition to the characterizationof the Doppler spectrum at each sampling point from a continuous waveform signal (portal vein) to a turbulent signal (aneurysmal cavity), and finally, to a biphasic waveform signal (hepatic vein).…”

Section: Discussionmentioning

confidence: 99%

Asymptomatic Aneurysmal Portosystemic Venous Shunt: A Case Report and Review of the Literature

Filik¹,

Boyacioglu

2006

Acta Med. (Hradec Kralove, Czech Repub.)

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Spontaneous intrahepatic portosystemic venous shunt (SIPSVS) is relatively rare and not well recognized. Herein, we report 75-year-old female of an aneurysmal portosystemic venous shunt detected by colour Doppler ultrasound in check-up examination. A direct vascular communication between left portal vein and middle hepatic vein was confirmed by CT-angiography. The cause of intrahepatic portosystemic venous shunt is disputed. This abnormality, mainly described in cirrhotic liver and rarely in healthy liver, is usually revealed by hepatic encephalopathy or glycoregulation disorders. However, with improvements in imaging the number of reports of SIPSVS identified incidentally in patients without definite symptoms increasing.

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“…As a result, intestinal and splenic venous blood bypasses the liver and drains into systemic veins. Clinical presentation, although variable, is usually with neonatal cholestasis, hyperammonemia, hepatic encephalopathy and elevated liver transaminases [1,2,3,4,5]. In some cases, the diagnosis is made in those who present with associated problems such as heart disease [6], portopulmonary hypertension [7] or neuropsychiatric symptoms [8].…”

Section: Introductionmentioning

confidence: 99%

Premature Pubarche, Hyperinsulinemia and Hypothyroxinemia: Novel Manifestations of Congenital Portosystemic Shunts (Abernethy Malformation) in Children

Baş

Güran²,

Atay³

et al. 2015

Horm Res Paediatr

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Congenital portosystemic shunt (CPSS) is persistence of an anomalous embryological connection of the portal vein with a large vein of the vena cava system. Clinical presentations include neonatal cholestasis, liver tumors, and encephalopathy, but can be variable in timing and symptomatology. We report 2 girls who presented 10 years apart with the same complaint of early pubarche at age 7 years, with inappropriately low DHEAS levels. In addition to hyperandrogenemia (elevated testosterone and androstenedione) and advanced bone age, both had hyperinsulinemia, and hypothyroxinemia. The 2nd case also had symptomatic hypoglycemia. Presentation of CPSS with this combination of findings in prepubertal children has not been reported previously. With further investigations, we proposed novel mechanisms explaining these manifestations. Hyperandrogenemia is caused by decreased hepatic sulfation of DHEA to less active DHEAS due to shunting of DHEA to systemic circulation. Elevated DHEA is then used for synthesis of more potent androgens. Shunting of postabsorbtive glucose from portal to systemic circulation causes early hyperglycemia leading to exaggerated insulin secretion. Insulin bypasses the hepatic metabolism directly entering into the systemic circulation, which results in hyperinsulinemia, then in turn causes late hypoglycemia. Finally, hypothyroxinemia was linked to thyroxin-binding globulin deficiency, which has not been reported in CPSS.

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Hypergalactosaemia in a newborn: self-limiting intrahepatic portosystemic venous shunt

Abstract: A congenital intrahepatic portosystemic venous shunt can cause hypergalactosaemia in the newborn and hyperammonaemia in the small infant. The malformation may resolve spontaneously obviating the need for intervention.

Cited by 61 publications

References 14 publications

Role of per-rectal portal scintigraphy in long-term follow-up of congenital portosystemic shunt

Role of per-rectal portal scintigraphy in long-term follow-up of congenital portosystemic shunt

Asymptomatic Aneurysmal Portosystemic Venous Shunt: A Case Report and Review of the Literature

Premature Pubarche, Hyperinsulinemia and Hypothyroxinemia: Novel Manifestations of Congenital Portosystemic Shunts (Abernethy Malformation) in Children

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