Is leads to a defect in conversion of lathosterol into 7-dehydrocholesterol. Lathosterolosis was initially reported by Brunetti-Pierri et al. in 2002 (Brunetti-Pierri et al. 2002). There have been 3 reported instances in literature so far, of which only a single patient survived. In the reported circumstances, sufferers with lathosterolosis had been characterized by numerous congenital anomalies, mastering disability, and liver involvement. We report a youngster with lathosterolosis confirmed each biochemically and genetically. Simvastatin was began as remedy with clinical response and normalization of blood lathosterol levelmunicated by: Verena Peters Competing interests: None declared A.C.C. Ho : C.W. Fung : V.C.N. Wong () Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Specific Administrative Area, China e-mail: [email protected] History The proband may be the very first kid of a non-consanguineous Caucasian couple. His parents had been wholesome and family members history was unremarkable for any neurodevelopmental or neurometabolic disorder. The antenatal period was uneventful. He was born at 39 weeks of gestation by vaginal delivery having a birth weight of three.3 kg and regular Apgar scores. He was noted to possess dysmorphic functions (bitemporal narrowing, broad nasal tip with no anteverted nostrils, and micrognathia) right after birth. Physical examinationT.S. Siu : O.C.K. Ma : S. Tam Division of Clinical Biochemistry, Queen Mary Hospital, Hong Kong Specific Administrative Region, China C.W. Lam Division of Pathology, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Specific Administrative Area, ChinaJIMD Reportsalso revealed microcephaly (his head circumference dropped from third percentile at birth to 2 cm under third percentile in the age of 18 months and grew along this centile line afterwards), central hypotonia, single umbilical artery, bilateral postaxial hexadactyly of feet, and bilateral soft tissue syndactyly among the second and third toes, for which he subsequently received a ADAM12, Human (HEK293, His) corrective operation at 20 months. He didn’t have any ptosis, cleft palate, or abnormal genitalia. He was noted to possess developmental delay with no regression considering that early childhood. Assessment utilizing Griffiths Mental Developmental Scales performed at 20 months of age demonstrated global developmental delay with an all round mental age of 11 months in addition to a developmental quotient of 55 adjusted for chronological age. The mental age of motor, speech, and performance domains have been 11.5 months, ten months, and 7.5 months, respectively. Sensible reasoning ENTPD3 Protein Synonyms couldn’t be assessed on account of the young age on the patient. Magnetic resonance imaging (MRI) brain performed at 18 months was regular. The proband was suspected to possess Smith-Lemli-Opitz syndrome in view with the dysmorphism, limb anomalies, and developmental delay. Plasma sterol profile was checked at the age of 22 months. In place of an increased 7-dehydrocholesterol level as typically found in SmithLemli-Opitz syndrome, the analysis showed marked elevation of lathosterol [81.six mmol/L (typical level 18 mmol/L)]. The levels of both 7-dehydrocholesterol [0.21 mmol/L (normal level 0.65 mmol/L)] and cholesterol (4.1 mmol/L) have been regular. This profile was biochemically compatible together with the diagnosis of lathosterolosis. Moreover, the patient’s skin fibroblasts have been sent for the Metabolic Centre from the University Children’s Ho.