A Case of Classic Galactosemia Manifesting as Neonatal Early and Profound Indirect hyperbilirubinemia

Kavehmanesh, Zohreh; Torkaman, Mohammad; Beiraghdar, Fatemeh

doi:10.14744/turkpediatriars.2019.21298

Cited by 6 publications

(6 citation statements)

References 7 publications

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“…Diagnostic dilemmas often arise when galactosemia cases clinically mirror alternate diagnoses such as cow milk protein allergy, inborn errors of bilirubin metabolism, and immunodeficiency syndromes with sepsis. Galactosemia may co-exist/ trigger conditions like hemophagocytic lymphohistiocytosis [4][5][6][7]. Our reported case demonstrates a unique clinical presentation of galactosemia in the form of large, widespread, and recurrent skin abscesses, which have not been previously reported as per our extensive literature review.…”

Section: Discussionmentioning

confidence: 51%

Fulminant Skin Abscesses and Hepatic Failure: A Notorious Disease Hidden in Plain Sight

Mir¹,

Rafaqat²,

Butt³

et al. 2023

Dubai Med J

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We present a one-month-old male brought in with diffuse large skin abscesses, failure to thrive, and hepatic failure. His status depreciated rapidly, requiring intensive care unit admission as a result of septic shock and multiple incision and drainage surgeries for skin abscesses. Wound site cultures yielded <i>Staphylococcus aureus</i> and urine culture positive for <i>Candida albicans</i>; however, extensive further investigations for causative infectious versus immune-related etiologies remained unfruitful. Despite broad-spectrum antibiotic, antifungal, and antituberculosis coverage, the child’s condition deteriorated further. Within a month of admission, parents were informed of an abnormal neonatal screening report from the hospital where he was born, as presumptively positive for galactosemia. Feeds were immediately shifted to non-lactose formulation, and diagnosis was then confirmed via genetic testing. Jaundice, coagulopathy, inflammatory markers, and weight gain all steadily improved thereafter, and the child was repatriated for continuity of care. Our case demonstrates a unique disease manifestation of a well-known, often forgotten disorder and reemphasizes the importance of rapid institution of lactose-free formula milk.

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Section: Discussionmentioning

confidence: 51%

Fulminant Skin Abscesses and Hepatic Failure: A Notorious Disease Hidden in Plain Sight

Mir¹,

Rafaqat²,

Butt³

et al. 2023

Dubai Med J

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“…The last published galactosemia case had presented with indirect hyperbilirubinemia that resolved after commencing lactose-free formula (6). The mean diagnosis time of these infants presented with jaundice was found at 2-3 weeks of life.…”

Section: Discussionmentioning

confidence: 99%

Galaktozemi: Atlanmaması Gereken Neonatal Sarılık Nedeni

AKYILDIZ¹,

EGELİ>²,

Armağan³

et al. 2023

Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi

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A case representing neonatal jaundice that includes direct and indirect hyperbilirubinemia was diagnosed with classical galactosemia. Even though she was initially approached as a neonatal sepsis case, after the cessation of her milk consumption, jaundice resolved, and the diagnosis was made and supported by additional diagnostic tools. It has been shared to emphasize the importance of assessment and urgent management of the disease during the neonatal period.

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“…TSH, T3, T4, and cortisol levels were also normal ( Table 2 ). The pertinent metabolic illnesses were evaluated and found to be negative, particularly galactosemia [ 30 ] and tyrosinemia type 1 [ 31 ]. There were no anomalies observed in a thorough metabolic examination that included blood amino acid levels, urine organic acid levels, and tandem mass spectrometry ( Table 2 ).…”

Section: Discussionmentioning

confidence: 99%

Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report

et al. 2022

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Patient: Male, newborn Final Diagnosis: Alagille syndrome Symptoms: Cholestasis and/or gallbladder dysfunction Medication: — Clinical Procedure: — Specialty: Genetics • Pediatrics and Neonatology Objective: Unusual clinical course Background: Alagille syndrome (ALGS) is a multisystem hereditary illness with a dominant pattern and partial penetrance. Multiple organ abnormalities can be caused by mutations in the Jagged canonical Notch ligand 1 (JAG1) gene. Notch receptor 2 (NOTCH2) gene mutations are also uncommon. ALGS is also characterized by deformed or narrowed bile ducts and is notoriously difficult to diagnose due to the wide range of symptoms and absence of unambiguous genotype-phenotype connections. Little is known about ALGS patients who have NOTCH2 mutations. We present a patient who developed progressive liver failure due to a unique pathogenic heterozygous variation of the NOTCH2 gene, c.1076c>T p. (Ser359Phe) chr1: 120512166, resulting in type 2 ALGS. Case Report: A Saudi Arabian newborn with bilateral hazy eyes, ectropion, dry ichthyic skin, normal male genitalia, and bilateral undescended testes was born at 31 weeks. Previous miscarriages, pregnancy-induced maternal cholestasis, fatty liver, or neonatal jaundice were not reported in the family history. He had developed worsening cholestatic jaundice by the third week of hospitalization. The extensive work-up for metabolic, infectious, and other relevant etiologies was negative. Following gram-negative sepsis, he died of multiorgan failure. A NOTCH2 gene mutation explained the phenotypic difference in our situation. Another intriguing observation was the presence of ichthysis and craniosynostosis in ALGS with a NOTCH2 mutation. Conclusions: Cholestasis in newborns can be difficult to diagnose. Next-generation sequencing detects 112 copy number variants in the cholestasis gene panel blood test. More research is needed to understand why NOTCH2 mutations are relatively rare in ALGS.

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A Case of Classic Galactosemia Manifesting as Neonatal Early and Profound Indirect hyperbilirubinemia

Cited by 6 publications

References 7 publications

Fulminant Skin Abscesses and Hepatic Failure: A Notorious Disease Hidden in Plain Sight

Fulminant Skin Abscesses and Hepatic Failure: A Notorious Disease Hidden in Plain Sight

Galaktozemi: Atlanmaması Gereken Neonatal Sarılık Nedeni

Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report

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