Sanjad Sakati syndrome
Updates to Case Attributes
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
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
Thinning of the long bones
Peri with peri-articular osteopenia
. No fracture line
No. No lytic nor sclerotic lesions.