Hypoparathyroidism-retardation-dysmorphism syndrome-Clinical insights from a large longitudinal cohort in a single medical center

Odeya David; Rotem Agur; Rosa Novoa; David Shaki; Dganit Walker; Lior Carmon; Marina Eskin-Schwartz; Ohad S Birk; Galina Ling; Ruth Schreiber; Neta Loewenthal; Alon Haim; Eli Hershkovitz

doi:10.3389/fped.2022.916679

Hypoparathyroidism-retardation-dysmorphism syndrome-Clinical insights from a large longitudinal cohort in a single medical center

Front Pediatr. 2022 Jul 22:10:916679. doi: 10.3389/fped.2022.916679. eCollection 2022.

Authors

Odeya David^{1

2}, Rotem Agur², Rosa Novoa³, David Shaki^{1

2}, Dganit Walker¹, Lior Carmon^{1

2}, Marina Eskin-Schwartz^{2

4}, Ohad S Birk^{2

4}, Galina Ling^{2

5}, Ruth Schreiber^{2

6}, Neta Loewenthal^{1

2}, Alon Haim^{1

2}, Eli Hershkovitz^{1

2}

Affiliations

¹ Pediatric Endocrinology Unit, Saban Pediatric Medical Center for Israel, Soroka University Medical Center, Beer Sheva, Israel.
² Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
³ Diagnostic Radiology Department, Soroka University Medical Center, Beer Sheva, Israel.
⁴ Morris Kahn Laboratory of Human Genetics, National Center for Rare Diseases, Faculty of Health Sciences, National Institute for Biotechnology in the Negev, Genetics Institute at Soroka University Medical Center, Ben-Gurion University of the Negev, Beer Sheva, Israel.
⁵ Pediatric Gastroenterology Unit, Saban Pediatric Medical Center for Israel, Soroka University Medical Center, Beer Sheva, Israel.
⁶ Pediatric Nephrology Unit, Soroka University Medical Center, Beer Sheva, Israel.

Abstract

Background: Hypoparathyroidism, retardation, and dysmorphism (HRD) Syndrome is a rare disease composed of hypoparathyroidism, retardation of both growth and development, and distinctive dysmorphic features. Here, we describe the long-term morbidity and mortality in a large cohort of HRD patients and suggest recommendations for follow up and treatment.

Methods: Medical records of 63 HRD syndrome patients who were followed at Soroka Medical Center during 1989-2019 were reviewed retrospectively. Information regarding demographics, medical complications, laboratory findings, and imaging studies was collected.

Results: The mortality rate was 52%. The main causes of death were infectious diseases including pneumonia, septic shock, and meningitis. Multiple comorbidities were found including brain anomalies in 90% of examined patients (basal ganglia calcifications, tightening of corpus callosum, Chiari malformation, hydrocephalous, and brain atrophy), seizures in 62%, nephrocalcinosis and/or nephrolithiasis in 47%, multiple eye anomalies were recorded in 40%, bowel obstructions in 9.5%, and variable expression of both conductive and senso-neural hearing loss was documented in 9.5%.

Conclusion: HRD is a severe multisystem disease. Active surveillance is indicated to prevent and treat complications associated with this rare syndrome.

Keywords: HRD; Sanjad-Sakati; bowel obstruction; infections; nephrolithiasis; seizures.