Familial Hypomagnesemia With Secondary Hypocalcemia: A Case Report

Gazzaz, Nour; Alghamdi, Maha

doi:10.7759/cureus.19847

Cited by 1 publication

(1 citation statement)

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“…In the present case, the clinical presentation included symptoms consistent with both neonatal sepsis and severe HSH, ultimately attributed to a TRPM6 gene mutation (c.5281C>G, p. Arg1761Gly). The clinical manifestations of hypomagnesemia, which may include neuromuscular irritability, tremors, and convulsions, closely mimic those of neonatal sepsis [ 49 ], thus complicating the diagnostic process. Consequently, the patient was administered a 72-hour course of antibiotics until cultures from blood, urine, and cerebrospinal fluid were confirmed to be negative.…”

Section: Discussionmentioning

confidence: 99%

A 26-Day-Old Neonate Presenting with Familial Hypomagnesemia with Secondary Hypocalcemia Associated with the Novel Homozygous TRPM6 Gene Variant c.5281C>G p. (Arg1761Gly) chr9: 77354845 – A Case Report

Uddin,

Alradhi,

Alqathani

et al. 2024

Am J Case Rep

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Patient: Male, 26-day-old Final Diagnosis: Familial hypomagnesaemia with secondary hypocalcemia Symptoms: Sepsis Clinical Procedure: — Specialty: Genetics Objective: Rare disease Background : Familial hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disorder (OMIM# 602014) caused by mutations in the gene encoding transient receptor potential melastatin 6 (TRPM6)) on chromosome 9q22, a channel involved in epithelial magnesium resorption. While a plethora of studies have delineated various clinical manifestations pertinent to this mutation, the literature is devoid of connections between TRPM6 mutations and bleeding diathesis, or sudden infant death syndrome (SIDS). This report presents a case of familial HSH associated with the novel homozygous TRPM6 gene variant c.5281C>G p. (Arg1761Gly) chr9: 77354845. Case Report: This report details a 26-day-old neonate, born full term with optimal Apgar scores, who experienced an abrupt emergence of apnea, cyanosis, bilateral nasal bleeding, and diminished alertness. Despite the neonate’s initially unremarkable clinical birth indicators, a meticulous assessment unveiled a pronounced family history of SIDS, including a sibling previously diagnosed with hypomagnesemia. Laboratory examination of the infant demonstrated severe hypomagnesemia and hypocalcemia, conditions which were promptly ameliorated following intravenous administration of magnesium and calcium. Whole-exome sequencing identified a homo-zygous TRPM6 gene mutation c.5281C>G p. (Arg1761Gly) at chr9: 77354845. This gene is crucial for magnesium regulation. The mutation involves a cytosine-to-guanine shift, resulting in an arginine to glycine amino acid substitution at position 1761 of the TRPM6 protein. Conclusions: This report has highlighted that infantile hypomagnesemia may be associated with symptoms and signs that can mimic infection, or it can present with seizures. Although familial HSH is a rare genetic disorder that can be identified by genetic testing, correction of hypomagnesemia is the most important and immediate clinical management strategy.

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Section: Discussionmentioning

confidence: 99%