Partial agenesis of corpus callosum in Sanjad–Sakati syndrome (p-ACC)

Neurological Manifestations of Sanjad–Sakati Syndrome: New Three Reported Cases from Tunisia

“…In fact, in some studies, MRI revealed different features in SSS: reduced white matter volume, delayed myelination, hypoplastic anterior pituitary, corpus callosum hypoplasia, like in case 2, and lateral ventricular dilatation with prominent temporal horns like in cases 1 and 2. 6 These MRI features could contribute to the varying degrees of developmental delay reported in this syndrome: hypotonia, hypertonia, and intellectual disability. In the study of Elhassanien and Alghaiaty, 5 brain MRI showed thin corpus callosum in two patients (8.3%) and intracranial calcifications in 22% of patients reported due to excessive use of vitamin D.…”

Sanjad-Sakati syndrome in a Tunisian child

“…Children suffering from SSS have typical faces with deep-set eyes, depressed nasal bridge with beaked nose, and micrognathia. Hypocalcemia is severe and associated with hyperphosphatemia and low parathyroid hormone (PTH) levels [1][2][3][4][5]. Immune deficiency in some patients has resulted in neonatal sepsis and repeated infections [1,6].…”

Endocrinological Manifestations of Sanjad-Sakati Syndrome

“…Intracranial (particularly basal ganglia calcifications) can be seen on brain imaging by CT/MRI secondary to hyperphosphatemia. In rare cases, partial agenesis of the corpus callosum can also be observed [ 17 ].…”

“…The treatment of patients suffering from SSS is a special challenge for all physicians, especially with controlling high phosphate levels in the blood which leads to generalized calcifications affecting multiple body systems, particularly, basal ganglia calcifications, in which globus pallidus is the most common site to be involved [ 17 , 18 ].…”