Neonatal Cholestasis: A Rare and Unusual Presentation of Pituitary Stalk Interruption Syndrome.

J Paul Frindik,R El Qadiry,H Nassih,I Ait Sab,A Bourrahouat,A Ouayad

doi:10.1155/2021/6161508

J Paul Frindik, R El Qadiry + Show 4 more

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https://doi.org/10.1155/2021/6161508

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Abstract

Pituitary stalk interruption syndrome (PSIS) is a very rare entity, and the clinical manifestations are nonspecific. Neonatal cholestasis due to endocrine disorders is rare and poorly recognized. Our case report describes a case of PSIS in a Moroccan infant revealed by isolated neonatal cholestasis, which is an unusual presentation in children. Case report. A 40-day-old girl was admitted to our department for progressive cholestatic jaundice appeared on the third day of life. She was born from a non-consanguineous marriage, and her prenatal and perinatal history went without incident. Physical examination showed icteric skin and sclera, without hepatomegaly. Analysis of pituitary hormones revealed panhypopituitarism. On brain magnetic resonance imaging (MRI), the pituitary stalk was absent, the posterior pituitary was ectopic, and the anterior pituitary was hypoplastic. The patient was diagnosed with interrupted pituitary stalk syndrome. The treatment consisted of hormone replacement with rapid improvement of her clinical condition. Conclusion. Panhypopituitarism, a consequence of PSIS, is a rare cause of neonatal cholestasis. However, pediatricians should keep this syndrome in mind for patients who present with neonatal cholestasis.

Highlights

Pituitary stalk interruption syndrome (PSIS) is a rare congenital anomaly, characterized by pituitary hormone deficiencies along with radiological features of a thin or interrupted pituitary stalk, an ectopic or absent posterior pituitary, or a hypoplastic or absent anterior pituitary [1].Clinical signs are variable and nonspecific, which may lead to delayed diagnosis
Our case report describes a case of PSIS in a Moroccan infant revealed by isolated neonatal cholestasis, which is an unusual presentation in children
En, pituitary hormonal profiles showed a low morning serum cortisol level at 1.30 μg/dl and a normal plasma adrenocorticotropic hormone (ACTH) level at 8.9 ng/l, indicating secondary adrenal insufficiency. yroid function tests showed a low free T4 level of 8.6 pmol/L and a normal TSH level of 3.61 mIU/L, suggesting central hypothyroidism

Summary

Introduction

Pituitary stalk interruption syndrome (PSIS) is a rare congenital anomaly, characterized by pituitary hormone deficiencies along with radiological features of a thin or interrupted pituitary stalk, an ectopic or absent posterior pituitary, or a hypoplastic or absent anterior pituitary [1]. Abdominal ultrasound and magnetic resonance cholangiopancreatography showed normal liver and gallbladder anatomy and patent hepatobiliary tract, ruling out the possibility of biliary atresia. White blood cells were 12400/mm, CRP was 18 mg/l (

Discussion

Conclusion