Picture of the Month Sydney S. Gellis, MD, Murray Feingold, MD; Contributed by Daniel Marshall B. Kreidberg, MD; Robert B. Allport, MD
Figure
1.
Figure
4.
Figure
Figure
5.
From the New England Medical Center, Boston Floating Hospital for Infants and Chil¬ dren, Boston. Reprint requests to Boston Floating Hospital, 20 Ash St, Boston, MA 02111 (Dr Gellis).
Downloaded From: by a Washington University - St Louis User on 04/08/2018
2.
W.
Dubner, MD;
Figure
3.
Denoument and Discussion
Arteriohepatic Dysplasia Fig 1 .—Characteristic facial appearance, including high forehead, deep-set eyes, and prominent ears and nose. Fig 2.—Characteristic facial appearance, including high forehead, deep-set eyes, and prominent ears and nose. Fig 3.—Hepatomegaly.
Fig 4.—Angiogram demonstrating pulmonary stenoses and hypo¬ plasia.
Fig 5.—"Butterfly"
Manifestations
Major manifestations include neo¬ intrahepatic cholestasis, hypo¬ plasia and stenosis of íhe pulmonary natal
arteries, disíincíive facies, skeletal anomalies, and growíh reíardaíion.
The onseí of cholestasis occurs in íhe firsí íhree moníhs of life. The clinical picíure varies and may resem¬ ble neonatal hepatitis, biliary alresia, or mild chronic impairmeni of liver function. Hepatomegaly wiíh or wiihoul splenomegaly is found. Liver func¬ tion tesis are often moderately abnor¬ mal and serum phospholipids and cholesterol may rise to extreme levels. Liver biopsy specimen usually shows hypoplasia of intrahepatic bile ducts with minimal fibrosis. The extrahepatic bile ducts are patent. The principle cardiovascular lesion is peripheral pulmonic stenosis. Car¬ diac angiography demonstrates hypo¬ plasia and single or multiple stenoses of the pulmonary arterial tree. Addi¬ tional cardiovascular malformations, including pulmonary valvular steno¬ sis, airial and veniricular seplal defecis, patenl ducfus arleriosus, coarclalion of ihe aorta, small lefl
vertebrae.
carotid artery, and iruncus arleriosis, have been described.
common
The face tends to be flal wiíh prom¬ inence of ihe forehead, nose, and jaw. Mild ocular hyperlelorism, deep-set eyes, and prominent or malformed ears may be present. Skeletal anomalies include vertebral body and arch defects, large bilateral parietal foramina, a bony bar connect¬ ing two ribs, and upper tibial exostosis. Most affected children have re¬ tarded growth, although height and weight may be in the low to normal range. Other reported findings in¬ clude cataracls, chorioretinal atrophy,
primary hypothyroidism, impaired renal function, hypogonadism and
interstitial fibrosis, and spermatogenic
hypoplasia on testicular biopsy. Intelligence was reported as normal in
series but mild to moderate menial retardation was frequent in one
another.
Genetics
Males and females are equally affected. There is a familial tendency with some pedigrees suggesting au-
íosomal dominant inheritance with variable expressivity. Treatment
The liver disease should be appro¬
priately treated and has a better prog¬ nosis than other types of intrahepatic cholestasis. Amelioration of hyperlipoproteinemia, disappearance of xanthomas, and improved growth rate have occurred with cholestryamine and dietary therapy. The cardiovascu¬ lar lesion, if limited to peripheral pulmonic stenosis, is usually asympto¬ matic.
References 1. Watson GH, Miller V: Arteriohepatic dysFamilial pulmonary arterial stenosis with neonatal liver disease. Arch Dis Child 48:459-466, 1973. 2. Alagille D, Odievre M, Gauthier M, et al: Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental and sexual develop¬ ment, and cardiac murmur. J Pediatr 86:63-71, 1975. 3. Greenwood RD, Rosenthal A, Crocker AC, et al: Syndrome of intrahepatic biliary dysgenesis and cardiovascular malformations. Pediatrics 58:243-247, 1976. 4. Riely CA, LaBrecque DR, Ghent C, et al: A father and son with cholestasis and peripheral pulmonic stenosis: A distinct form of intrahepat¬ ic cholestasis. / Pediatr 92:406-411, 1978.
plasia:
The Editors welcome contributions to "Picture of the Month" and "Radiological Case of the Month." Those who wish to contribute should send their manuscripts to Dr Gellis (Picture of the Month), Boston Floating Hospital, 20 Ash St, Boston, MA 02111, or Dr Young (Radiological Case of the Month), Department of Radiology, Children's Hospital ofPittsburgh, 125 DeSoto St, Piftsbttrgh, PA 15213. Articles and photographs accepted for publication will bear the contributor's name. There is no charge for reproduction and printing of color illustrations.
Downloaded From: by a Washington University - St Louis User on 04/08/2018
Figure
1.
Figure
4.
Figure
Figure
5.
From the New England Medical Center, Boston Floating Hospital for Infants and Chil¬ dren, Boston. Reprint requests to Boston Floating Hospital, 20 Ash St, Boston, MA 02111 (Dr Gellis).
Downloaded From: by a Washington University - St Louis User on 04/08/2018
2.
W.
Dubner, MD;
Figure
3.
Denoument and Discussion
Arteriohepatic Dysplasia Fig 1 .—Characteristic facial appearance, including high forehead, deep-set eyes, and prominent ears and nose. Fig 2.—Characteristic facial appearance, including high forehead, deep-set eyes, and prominent ears and nose. Fig 3.—Hepatomegaly.
Fig 4.—Angiogram demonstrating pulmonary stenoses and hypo¬ plasia.
Fig 5.—"Butterfly"
Manifestations
Major manifestations include neo¬ intrahepatic cholestasis, hypo¬ plasia and stenosis of íhe pulmonary natal
arteries, disíincíive facies, skeletal anomalies, and growíh reíardaíion.
The onseí of cholestasis occurs in íhe firsí íhree moníhs of life. The clinical picíure varies and may resem¬ ble neonatal hepatitis, biliary alresia, or mild chronic impairmeni of liver function. Hepatomegaly wiíh or wiihoul splenomegaly is found. Liver func¬ tion tesis are often moderately abnor¬ mal and serum phospholipids and cholesterol may rise to extreme levels. Liver biopsy specimen usually shows hypoplasia of intrahepatic bile ducts with minimal fibrosis. The extrahepatic bile ducts are patent. The principle cardiovascular lesion is peripheral pulmonic stenosis. Car¬ diac angiography demonstrates hypo¬ plasia and single or multiple stenoses of the pulmonary arterial tree. Addi¬ tional cardiovascular malformations, including pulmonary valvular steno¬ sis, airial and veniricular seplal defecis, patenl ducfus arleriosus, coarclalion of ihe aorta, small lefl
vertebrae.
carotid artery, and iruncus arleriosis, have been described.
common
The face tends to be flal wiíh prom¬ inence of ihe forehead, nose, and jaw. Mild ocular hyperlelorism, deep-set eyes, and prominent or malformed ears may be present. Skeletal anomalies include vertebral body and arch defects, large bilateral parietal foramina, a bony bar connect¬ ing two ribs, and upper tibial exostosis. Most affected children have re¬ tarded growth, although height and weight may be in the low to normal range. Other reported findings in¬ clude cataracls, chorioretinal atrophy,
primary hypothyroidism, impaired renal function, hypogonadism and
interstitial fibrosis, and spermatogenic
hypoplasia on testicular biopsy. Intelligence was reported as normal in
series but mild to moderate menial retardation was frequent in one
another.
Genetics
Males and females are equally affected. There is a familial tendency with some pedigrees suggesting au-
íosomal dominant inheritance with variable expressivity. Treatment
The liver disease should be appro¬
priately treated and has a better prog¬ nosis than other types of intrahepatic cholestasis. Amelioration of hyperlipoproteinemia, disappearance of xanthomas, and improved growth rate have occurred with cholestryamine and dietary therapy. The cardiovascu¬ lar lesion, if limited to peripheral pulmonic stenosis, is usually asympto¬ matic.
References 1. Watson GH, Miller V: Arteriohepatic dysFamilial pulmonary arterial stenosis with neonatal liver disease. Arch Dis Child 48:459-466, 1973. 2. Alagille D, Odievre M, Gauthier M, et al: Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental and sexual develop¬ ment, and cardiac murmur. J Pediatr 86:63-71, 1975. 3. Greenwood RD, Rosenthal A, Crocker AC, et al: Syndrome of intrahepatic biliary dysgenesis and cardiovascular malformations. Pediatrics 58:243-247, 1976. 4. Riely CA, LaBrecque DR, Ghent C, et al: A father and son with cholestasis and peripheral pulmonic stenosis: A distinct form of intrahepat¬ ic cholestasis. / Pediatr 92:406-411, 1978.
plasia:
The Editors welcome contributions to "Picture of the Month" and "Radiological Case of the Month." Those who wish to contribute should send their manuscripts to Dr Gellis (Picture of the Month), Boston Floating Hospital, 20 Ash St, Boston, MA 02111, or Dr Young (Radiological Case of the Month), Department of Radiology, Children's Hospital ofPittsburgh, 125 DeSoto St, Piftsbttrgh, PA 15213. Articles and photographs accepted for publication will bear the contributor's name. There is no charge for reproduction and printing of color illustrations.
Downloaded From: by a Washington University - St Louis User on 04/08/2018
