Genetic disorders with predominant central nervous system white matter abnormalities (CNS WMAs), also called leukodystrophies, are heterogeneous entities. We ascertained 117 individuals with CNS WMAs from 104 unrelated families. Targeted genetic testing was carried out in 16 families and 13 of them received a diagnosis.

This study was undertaken to probe the efficacy of tricalcium phosphate ceramic (TCP) as an immediate root implant in the maintenance of alveolar bone. Three patients had five TCP root implants placed in fresh extraction sockets with soft tissue closure. The control and implant areas were evaluated at the 20th and 78th week on the basis of radiographic and clinical measurements. Tricalcium phosphate ceramic root implants in extraction sockets produced a significant increase in height and width of alveolar bone compared with control sites. It is believed that this method is a more effective and efficient procedure to preserve alveolar bone for the retention of dentures than other methods.

Biotinidase deficiency (BD) is an autosomal recessive disorder caused by bi-allelic mutation in the BTD gene. Clinical manifestations in BD mainly depends on residual biotinidase enzyme activity, although there are some exceptions. Broadly BD disorders are classified as profound BD and partial BD. Further profound BD can be early onset, late onset, and sometimes may be asymptomatic. Clinically late-onset profound BD can present with spectrum of manifestations ranging from single organ to multiple organ involvement, typically affecting function of brain, eye, ear, and skin. Here, a first-born child to consanguineous parents with late-onset profound BD presenting with hyperventilation secondary to lactic acidosis, hypotonia, evolving spasticity, and abnormal neuroimaging findings caused by novel homozygous variant, c.466-3T>G in the BTD gene is reported.