JEUNE SYNDROME WITH NEONATAL

CHOLESTASIS a case report

Dr Prisca Colaco, Dr Bageshree Seth, Dr. Jeetendra Gavahane, Dr Srinath
Reddy

J
eune Syndrome or Asphyxiating
Thoracic Dystrophy (ATD) is an autosomal recessive skeletal dysplasia recognizable at birth by a
narrow thorax and short limbs. It is associated with pulmonary hypoplasia, renal, pancreatic and
hepatic disease and retinal degeneration, which characterize it as a multisystem disorder.
Although the skeletal & renal manifestations of the disease are well described, hepatic
manifestations are rare. This is a report of a three-month-old infant with Jeune syndrome who
presented with neonatal cholestasis.

Clinical history-

A three-month-old male infant, the second child of a non-consanguineous marriage was admitted
with jaundice since birth. The baby was born at term by a caesarean section. He had respiratory
distress at birth, but had not required any assisted ventilation.
Jaundice developed on the third day of life, though predominantly unconjugated type initially
(Day 7 Total Bilirubin 17.8mg%; Direct- 1.7mg%), persisted, which changed to conjugated
hyperbilirubinemia from the second week (Day 30 -Total Bilirubin 24.3 mg%; Direct Bilirubin15.4mg%). There was no evidence of sepsis, intrauterine infection, or hypothyroidism.
At three months he was icteric and had respiratory distress. The child was passing normal yellow
coloured stools. The chest was small and the limbs appeared short. Liver and spleen were
enlarged and firm in consistency. There was no polydactyly. Ophthalmic examination was
normal.
Laboratory studies showed normal blood counts, Total bilirubin - 15.19 mg% - Direct bilirubin 13.28mg%. Serum total protein was 5.8g% with albumin of 4.5g%; SGOT 147.7U/ml; SGPT
107.7 U/ml. Prothrombin time was normal; Alpha-1 antitrypsin was normal. Blood urea 18mg%
and Serum creatinine - 0.4 mg%. Blood culture & urine cultures were sterile. There was no
evidence of Intrauterine Infection. HIDA scan showed impaired hepatocyte function consistent
with Hepatitis and the visualization of bowel loops in the delayed images ruled out the
possibility of biliary atresia.

X ray of the chest showed narrow thorax, short horizontal ribs, and handle bar clavicles. X ray of
the pelvis showed hypoplastic iliac wings, trident acetabular roofs and sciatic notch spur.
Ultrasonography of the abdomen showed hepatosplenomegaly with prominent common bile duct

and intrahepatic biliary radicals. The left umbilical vein was patent. Both the kidneys and the
pancreas were normal. Liver biopsy showed portal fibrosis with dilated bile ducts. There were no
signs of inflammation or necrosis. Hepatocytes, Kuppfer cells & central veins appeared normal.
The child was discharged on ursodeoxycholic acid. The child was lost on follow up and it was
learnt that he had died after a lower respiratory tract infection but the jaundice had reportedly
decreased.

DiscussionAsphyxiating Thoracic Dystrophy (ATD) is an autosomal recessive skeletal dysplasia , first

described by Jeune-et al in 1955 (1). The probable incidence of ATD is estimated between 1 in
1,00,000 to 1 in 1,30,000 live births (2). Diagnosis is based on the classical radiographic
findings, characterized by small and long thoracic cage with short ribs and handle bar clavicles.
Pelvis is small with hypoplastic iliac wings, trident acetabular roofs, and sciatic notch spur. Ellisvan-creveld syndrome is a close differential but is associated with congenital heart defects,
polydactyly and hypoplastic nails (3).
The syndrome has a multisystem involvement and has a poor prognosis. Death in the immediate
neonatal period is mainly due to pulmonary insufficiency. Survivors of the neonatal period
usually succumb to progressive renal disease (4). Pancreatic cysts and fibrosis is seen associated
in a few cases (5). Liver involvement though often noted on autopsy(5,6), rarely presents
clinically. Very few cases of liver involvement have been reported antemortem. (7) The classical
pathologic lesion - biliary dysgenesis with portal fibrosis and bile duct proliferation have been
reported antemortem. The case we reported here presented as prolonged neonatal cholestasis
with normal yellow stools having severe hyperbilirubinemia - Direct bilirubin of 13.28mg% in
the third month of life. There was no renal impairment.
Pawlowska et al reported three cases with neonatal cholestasis and concluded that newborns with
ATD and cholestasis had very poor prognosis (7). Labruene et al reported three children who had
clinical and laboratory evidence of liver disease and documented that treatment with
ursodeoxycholic acid controlled the progression of hepatic dysfunction (8).
The clinical outcome of liver dysfunction remains only partially characterized in this disorder.
Variability in the clinical & pathologic manifestations maybe related to genetic heterogenosity.

References1. Jeune M, Beraud C, Carron R. Dystrophie thoracique asphyxiante de caractere familial.

Arch Fr Pediatr 1955;12:886891.

2. Oberklaid R, Danks DM, Mayne V, Campbell P. Asphyxiating thoracic dysplasia. Clinical,

radiological, and pathological information on 10 patients. Arch Dis Child 1977;52:758
765
3. Ellis, RW; van Crebeld,s; A syndrome characterized by ectodermal dysplasia,
polydactyly, chondroplasia, and congenital morbus cordis: report of three cases. Arch.
Dis. Child. 15;65-84, 1940
4. Turkel SB, Diehl EJ, Richmond JA. Necropsy findings in neonatal asphyxiating thoracic
dystrophy. J Med Genet 1985;22:112118
5. Whitley C.B. et.al. : Direct Hyperbilirubinemia and hepatic fibrosis: American journal of

genetics (1987;3:211-20)

6. Yerian L.M. et.al. : Hepatic manifestations of June Syndrome. : Semin Liver Dis. 2003,
May; 23(2):195-200

7. Joanna Pawlowska, Anna Dobrzanska, Marek Migdal, el al cholestasis of different

clinical severity in children with jeune syndrome. Experimental and clinical hepatology,
2007; 3(4): 41-44.
8. Labrune P, Fabre M, Trioche P, et al. Jeune syndrome and liver disease: report of three
cases treated with ursodeoxycholic acid. Am J Med Genet 1999; 87:324328