We describe the first pediatric case of a 20-month-old female with Sanjad-Sakkati Syndrome who developed acute liver failure with associated multisystem inflammatory syndrome in children [МІS-C] and a good outcome. The primary finding in this case, is that despite the high morbidity and mortality rates of SSS patients due to its immunosuppressive effects, early aggressive approach to treating severe viral infections manifestations, for instance acute liver failure could lead to a favourable outcome and avoid the need for liver transplant.

Tubulin-folding cofactor E (TBCE) plays a central role in tubulin heterodimer formation and disaggregation. Both TBCE biallelic and monoallelic pathogenic variants have been associated with human diseases involving endocrine and/or neurologic system. This study aimed to expand current knowledge on the neurodegenerative phenotype associated with TBCE variants, and to explore possible genotype-phenotype correlations. Subjects with a neurodegenerative syndrome caused by biallelic TBCE variants were recruited from three centers. Clinical, genetic, neuroimaging and neurophysiological data were collected retrospectively and, when available, longitudinally. A systematic literature review focusing on genotype-phenotype correlations was also performed. Thirteen subjects, including eight newly reported and five previously published, were enrolled. Data from 322 additional patients were available from systematic literature review, for a total of 335 TBCE mono- and biallelic patients. Sanjad-Sakati syndrome was the most frequent form (85%), while the neurodegenerative phenotype accounted for a minority (5%) of cases. TBCE-related neurodegeneration ranged from progressive spastic-ataxic tetraparesis, optic atrophy and distal motor axonal neuropathy, consistent with already named PEAMO (progressive encephalopathy with amyotrophy and optic atrophy) to milder complex spastic paraparesis. Brain imaging often revealed progressive thinning of the corpus callosum, cerebro-cerebellar atrophy, white matter abnormalities and possible iron accumulation in deep grey matter structures. Additional relevant features included scoliosis, respiratory and gastrointestinal dysfunctions. Genotype-phenotype correlation and a distinct geographic distribution were identified across phenotypes. Pathogenic biallelic TBCE variants present phenotypic heterogeneity, with at least four different phenotypes, with genotype-phenotype correlation. TBCE-related neurodegeneration is a severe multisystem disorder that requires multidisciplinary management.

This study aimed to evaluate the kidney and urinary abnormalities in children diagnosed with Sanjad-Sakati syndrome (SSS).  This was a retrospective, descriptive hospital-based study performed at the Child Health Department, Sultan Qaboos University Hospital, Oman. The study included all pediatric patients up to the age of 15 years who presented with clinically and/or genetically confirmed SSS from January 2006 to December 2020. Fifteen patients were enrolled in the study. Hypercalciuria was present in 15 (100%) patients. The majority of children were observed to be less than five years at the time of onset of hypercalciuria (age range from 2 to 14 years). Nephrocalcinosis was observed in 10 (66.7%) patients. Nonobstructive kidney stones were identified in two (13.3%) patients at ages 6 and 11 years. At the last follow-up, nine (60%) had normal kidney function, while four (26.7%) and two (13.3%) patients were observed to have chronic kidney disease stages 1 and 2, respectively. No case of end-stage kidney disease was detected. These results highlight significant kidney involvement, particularly hypercalciuria and nephrocalcinosis, in patients with SSS, followed by consequent stones and progressive kidney dysfunction, indicating the need for regular kidney surveillance to ensure timely detection and management of evolving kidney disease.

Sanjad Sakati syndrome (SSS) is a rare autosomal recessive disorder seen among the Arab population and is characterized by congenital hypothyroidism, growth retardation, and dysmorphism. As a complication for that, the patient may present with several metabolic and septic complications. None of the patients in literature was described to have hydrocephalus. This case report aims at describing a case with SSS who presented to our center with hydrocephalus, which is to our knowledge the first case with this unusual presentation to be described in literature. In this report, we will also convey our experience in treating this complicated case and the way we dealt with the complications encountered during the hospital stay.

Sanjad-Sakati syndrome is an autosomal recessive disorder characterized by facial dysmorphia, growth retardation, and congenital hypoparathyroidism. Epidemiologically, this syndrome is primarily observed in children of Arabian descent. However, cases have also been reported in non-Arab countries. Although its exact prevalence is uncertain, the estimated incidence in Saudi Arabia ranges from one in 40,000 to one in 600,000 live births. We report a case of Sanjad-Sakati syndrome in a female infant, born to first-degree consanguineous parents, who presented with convulsive seizures since the age of four months. Laboratory findings indicated severe hypocalcemia and elevated phosphate levels, consistent with congenital hypoparathyroidism. The treatment involved calcium and vitamin D supplementation, which led to a marked improvement in the patient's condition. The objective of this clinical case is to highlight an uncommon cause of hypocalcemia and to describe certain clinical and endocrinological manifestations of Sanjad-Sakati syndrome, which is prevalent in the Arab population.