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

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

Odeya David  1   2 , Rotem Agur  2 , Rosa Novoa  3 , David Shaki  1   2 , Dganit Walker  1 , 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

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

Odeya David et al. Front Pediatr. .

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.

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Figures

Figure 1
Figure 1
Brain imaging of HRD patients. Axial brain CT without contrast showing bilateral frontoparietal calcifications (A), bilateral basal ganglia coarse calcifications (B) small bilateral Dentate Nucleus calcifications (C); Sagittal brain MRI T1 without contrast showing Chiari Malformation and thin Corpus Callosum (D) considerable tightening of Corpus Callosum (E); Sagittal brain MRI T1 with gadolinium showing drooping of cervical tonsils trough the foramen magnum and pituitary gland flattening (F).
See this image and copyright information in PMC

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