Pseudohypoaldosteronism Type 1B and Cohen Syndrome: Novel Mutation, Unusual Combination, and Presentation

TL;DR

This paper reports a rare case of a patient with Cohen syndrome and pseudohypoaldosteronism, highlighting a novel mutation and management challenges.

Contribution

The study presents a novel mutation associated with Cohen syndrome and pseudohypoaldosteronism.

Findings

A female patient was diagnosed with Cohen syndrome and pseudohypoaldosteronism type 1B.

A novel mutation was identified in the patient, contributing to the rare combination of these disorders.

The case highlights the challenges in managing patients with this unusual combination of conditions.

Abstract

Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disorder of resistance to aldosterone and presents with hyponatremia, hyperkalemia, and metabolic acidosis. Cohen syndrome (CS) is another rare inherited disease. Concurrent presentation with pseudohypoaldosteronism makes it so extraordinary and implies more challenges for clinicians. We report a case of a female with Cohen syndrome (novel mutation) and systemic pseudohypoaldosteronism, as well as the challenges we have encountered in the management of this patient.

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