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Sanjad Sakati syndrome

Case contributed by Mohamed Mahmoud Elthokapy , 4 Jan 2021
Diagnosis almost certain
Changed by Jeremy Jones, 20 Jan 2021

Updates to Case Attributes

Status changed from pending review to published (public).
Presentation was changed:
Arabian boy , his parents gave old history. History of congenital hypoparathyroidism, severe prenatal and postnatal growth retardation and presented with recurrent seizures, dysmorphic features, as well as mildmental retardation.
Published At was set to .
Body was changed:

 ArabianArabian boy , his parents gave old history of born with IUGR and presented with hypocalcaemichypocalcemic tetany as well as seizures

Laboratory results revealed :Low:

  • low calcium: 1.5 mmol/L, High Phosphate :2
  • high phosphate: 2.7 mmol/L,
  • normal Alkaline phosphatase and Low
  • low PTH: 19 pmol/L (n= 29-85)

Imaging findings revealed multiple bilateral rather symmetrical multiple dense calcification deposition at both basal ganglia , thalami , cerebellicentral and cerebral white matter likelysubcortical calcification, likely metabolic secondary to calcium disorder of hypoparathyroidism.

He has typical morphological features, namely; long narrow face, deep set-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

  • -<p> Arabian boy , his parents gave old history of born IUGR and presented with hypocalcaemic tetany as well as seizures</p><p>Laboratory results revealed :Low calcium : 1.5 mmol/L, High Phosphate :2.7 mmol/L, normal Alkaline phosphatase and Low PTH: 19 pmol/L (n= 29-85). </p><p>Imaging findings revealed bilateral rather symmetrical multiple dense calcification deposition at both basal ganglia , thalami , cerebelli and cerebral white matter likely metabolic secondary to calcium disorder of hypoparathyroidism </p><p>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</p><p>Genetic studies revealed mutations in the gene-encoding tubulin-specific chaperone E (TBCE; 604934), located on chromosome 1q42.3. SSS suggesting Sanjad Sakatti syndrome</p>
  • +<p>Arabian boy with IUGR and hypocalcemic tetany as well as seizures</p><p>Laboratory results revealed:</p><ul>
  • +<li>low calcium: 1.5 mmol/L</li>
  • +<li>high phosphate: 2.7 mmol/L</li>
  • +<li>normal Alkaline phosphatase</li>
  • +<li>low PTH: 19 pmol/L (n= 29-85)</li>
  • +</ul><p>Imaging findings revealed multiple bilateral symmetrical central and subcortical calcification, likely metabolic secondary to calcium disorder of hypoparathyroidism.</p><p>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.</p><p>Genetic studies revealed mutations in the gene-encoding tubulin-specific chaperone E (TBCE; 604934), located on chromosome 1q42.3. SSS suggesting Sanjad Sakatti syndrome</p>

References changed:

  • https://radiopaedia.org/articles/sanjad-sakati-syndrome?lang=gb
  • https://www.sciencedirect.com/science/article/pii/S1110663816300921#:~:text=Background.%20Sanjad%20Sakati%20Syndrome%20%28SSS%29%20is%20a%20rare,The%20prevalence%20of%20this%20syndrome%20is%20not%20known.
  • https://www.sciencedirect.com/science/article/pii/S1110663816300921#:~:text=Background.%20Sanjad%20Sakati%20Syndrome%20%28SSS%29%20is%20a%20rare,The%20prevalence%20of%20this%20syndrome%20is%20not%20known.
  • https://www.sciencedirect.com/science/article/pii/S1110663816300921#:~:text=Background.%20Sanjad%20Sakati%20Syndrome%20%28SSS%29%20is%20a%20rare,The%20prevalence%20of%20this%20syndrome%20is%20not%20known.

Updates to Study Attributes

Findings was changed:

Evidence ofMultiple bilateral rather symmetrical multiple dense calcification deposition at bothwithin the basal ganglia, thalami , cerebelli ,and cerebellum as well as subcortical frontal ,parietal, parietal and to lesslesser extent temporal and occipital lobes

Updates to Study Attributes

Findings was changed:

Thinning of the long bones

Peri with peri-articular osteopenia

. No fracture line

No. No lytic nor sclerotic lesions.

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