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Background <p>Neonatal cholestasis is a multifactorial disorder that may result from metabolic, infectious, or genetic etiologies. Dehydrated hereditary stomatocytosis (DHS), a rare autosomal dominant hemolytic anemia caused by <i>PIEZO1</i> gene mutations, is primarily a hematologic condition. Hepatic involvement is exceptional.</p> Case presentation <p>A 1.5-month-old female infant presented with progressive jaundice and abdominal distension. Anthropometry revealed weight 3.1&#xa0;kg (&lt; 3rd percentile). Laboratory evaluation showed direct hyperbilirubinemia (total 6.8&#xa0;mg/dL, direct 4.5&#xa0;mg/dL), elevated AST (287 IU/L), ALT (82 IU/L), and γ-glutamyl transferase (390 U/L). Ultrasonography revealed hepatosplenomegaly with mild ascites. Whole-exome sequencing identified a heterozygous <i>PIEZO1</i> variant (NM_001142864.4:c.xxxA &gt; G; p.Xxx123Gly), classified as “likely pathogenic” (ACMG PS3, PM2, PP3) and confirmed by Sanger sequencing. Liver biopsy showed cirrhosis with cholestasis (Ishak Fibrosis Score 6/6, HAI 8/18). The infant was treated with ursodeoxycholic acid, fat-soluble vitamins, and MCT-based feeding. Brainstem-evoked response audiometry revealed mild bilateral sensorineural hearing loss of uncertain clinical significance. At 4 months, the child’s weight was 3.9&#xa0;kg with persistent cholestasis.</p> Conclusion <p>This case underscores a rare association between <i>PIEZO1</i>-related DHS and neonatal cholestatic cirrhosis. Genetic testing plays a vital role in infants with unexplained cholestasis, enabling early diagnosis and multidisciplinary management.</p>

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Neonatal cholestatic cirrhosis in an infant with dehydrated hereditary stomatocytosis due to a PIEZO1 mutation: a rare association

  • 期刊论文

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  • 发表日期：

    2025年12月1日

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  • Deepak Borde,
  • Vishal Sawant,
  • Sushma Save,
  • Alpana Kondekar

摘要

Background

Neonatal cholestasis is a multifactorial disorder that may result from metabolic, infectious, or genetic etiologies. Dehydrated hereditary stomatocytosis (DHS), a rare autosomal dominant hemolytic anemia caused by PIEZO1 gene mutations, is primarily a hematologic condition. Hepatic involvement is exceptional.

Case presentation

A 1.5-month-old female infant presented with progressive jaundice and abdominal distension. Anthropometry revealed weight 3.1 kg (< 3rd percentile). Laboratory evaluation showed direct hyperbilirubinemia (total 6.8 mg/dL, direct 4.5 mg/dL), elevated AST (287 IU/L), ALT (82 IU/L), and γ-glutamyl transferase (390 U/L). Ultrasonography revealed hepatosplenomegaly with mild ascites. Whole-exome sequencing identified a heterozygous PIEZO1 variant (NM_001142864.4:c.xxxA > G; p.Xxx123Gly), classified as “likely pathogenic” (ACMG PS3, PM2, PP3) and confirmed by Sanger sequencing. Liver biopsy showed cirrhosis with cholestasis (Ishak Fibrosis Score 6/6, HAI 8/18). The infant was treated with ursodeoxycholic acid, fat-soluble vitamins, and MCT-based feeding. Brainstem-evoked response audiometry revealed mild bilateral sensorineural hearing loss of uncertain clinical significance. At 4 months, the child’s weight was 3.9 kg with persistent cholestasis.

Conclusion

This case underscores a rare association between PIEZO1-related DHS and neonatal cholestatic cirrhosis. Genetic testing plays a vital role in infants with unexplained cholestasis, enabling early diagnosis and multidisciplinary management.