Translational pediatrics · 2026
Infantile cholestasis caused by pituitary stalk interruption syndrome: a case report and review of the literature.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Liao Xiaoqing, Liu Shengxuan, Zou Biao, Shu Sainan, Dong Chen
Аннотация
BACKGROUND: Pituitary stalk interruption syndrome (PSIS) is a clinical syndrome caused by the absence or thinning of the pituitary stalk. This syndrome mainly impairs the transport of hormones from the hypothalamus to the posterior pituitary gland and affects the action of relevant hormones on the anterior pituitary gland, thereby leading to common clinical manifestations such as diabetes insipidus, growth retardation, gonadal dysplasia, hypothyroidism, and adrenocortical hypofunction. In PSIS, cases presenting with infantile cholestasis as the initial and prominent manifestation are relatively rare and prone to misdiagnosis.
CASE DESCRIPTION: A boy aged 2 months was admitted for cholestatic liver disease, presenting with poor response to routine choleretic therapy, non-elevated gamma-glutamyl transferase (GGT) level, hypothyroidism and recurrent hypoglycemia. Difficulties were encountered in identifying the etiology of common infantile cholestatic liver disease with non-elevated GGT. Subsequently, cranial magnetic resonance imaging (MRI) and genetic testing were completed focusing on the symptoms related to the endocrine axis, leading to a definitive diagnosis of PSIS. The infant achieved stable and favorable therapeutic outcomes after receiving combined treatment by endocrinologists and gastroenterologists during follow-up.
CONCLUSIONS: The prominent feature of this case was infantile cholestatic liver disease accompanied by hypoglycemia and hypothyroidism. For infants, hypoglycemia and hypothyroidism should not be overlooked, and close monitoring is required. As pediatric gastroenterologists, when routine treatment fails for infantile cholestatic liver disease, we need to consider the possibility of cholestasis caused by hypothalamic-pituitary axis abnormality, and conduct relevant imaging examinations, hormone level tests and genetic tests when necessary. At this point, the joint diagnosis and treatment by gastroenterologists and endocrinologists is particularly important.
CASE DESCRIPTION: A boy aged 2 months was admitted for cholestatic liver disease, presenting with poor response to routine choleretic therapy, non-elevated gamma-glutamyl transferase (GGT) level, hypothyroidism and recurrent hypoglycemia. Difficulties were encountered in identifying the etiology of common infantile cholestatic liver disease with non-elevated GGT. Subsequently, cranial magnetic resonance imaging (MRI) and genetic testing were completed focusing on the symptoms related to the endocrine axis, leading to a definitive diagnosis of PSIS. The infant achieved stable and favorable therapeutic outcomes after receiving combined treatment by endocrinologists and gastroenterologists during follow-up.
CONCLUSIONS: The prominent feature of this case was infantile cholestatic liver disease accompanied by hypoglycemia and hypothyroidism. For infants, hypoglycemia and hypothyroidism should not be overlooked, and close monitoring is required. As pediatric gastroenterologists, when routine treatment fails for infantile cholestatic liver disease, we need to consider the possibility of cholestasis caused by hypothalamic-pituitary axis abnormality, and conduct relevant imaging examinations, hormone level tests and genetic tests when necessary. At this point, the joint diagnosis and treatment by gastroenterologists and endocrinologists is particularly important.