Sanjad-Sakati syndrome (hypoparathyroidism-retardation-dysmorphism (HRD))

Case contributed by Dr Mohamed Mahmoud Elthokapy

Presentation

Arabian boy. History of congenital hypoparathyroidism, severe prenatal and postnatal growth retardation and recurrent seizures, dysmorphic features, as well as mild mental retardation.

Patient Data

Age: 9 yrs 5 months
Gender: Male

Multiple bilateral symmetrical dense calcification within the basal ganglia, thalami and cerebellum as well as subcortical frontal, parietal and to lesser extent temporal and occipital lobes

Thinning of the long bones with peri-articular osteopenia. No fracture. No lytic nor sclerotic lesions.

Case Discussion

Arabian boy with IUGR and hypocalcemic tetany as well as seizures

Laboratory results revealed:

  • low calcium: 1.5 mmol/L
  • high phosphate: 2.7 mmol/L
  • normal Alkaline phosphatase
  • low PTH: 19 pmol/L (n= 29-85)

Imaging findings revealed multiple bilateral symmetrical central and subcortical calcification, likely metabolic secondary to calcium disorder of hypoparathyroidism.

He has typical morphological features, namely; long narrow face, deep-set small eyes, beaked nose, large floppy ears and micrognathia, failure to succeed and mild to moderate mental retardation.

Genetic studies revealed mutations in the gene-encoding tubulin-specific chaperone E (TBCE; 604934), located on chromosome 1q42.3. SSS suggesting Sanjad Sakatti syndrome

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Case information

rID: 85649
Published: 20th Jan 2021
Last edited: 23rd Jan 2021
Inclusion in quiz mode: Included
Institution: HNH-Aseer

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