Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature

Abstract

Cysthiatonine beta-synthase (CBS) deficiency (CBSD) is an autosomal recessive rare disorder caused by variations on CBS that leads to impaired conversion of homocysteine (Hcy) to cystathionine. Marked hyperhomocysteinemia is the hallmark of the disease. The administration of pyridoxine, the natural cofactor of CBS, may reduce total plasma Hcy. Patient phenotype is classified on pyridoxine responsivity in two groups: pyridoxine-responsive and non-responsive patients. Ectopia lentis, bone deformities, developmental delay, and thromboembolism are the classic signs and symptoms of the disease. Early diagnosis and treatment impact patients’ natural history. Therapy aims to lower promptly and maintain Hcy concentrations below 100 μmol/L. Depending on the patient’s phenotype, the treatment goals could be obtained by the administration of pyridoxine and/or betaine associated with a methionine-restricted diet. CBSD could be diagnosed in the early days of life by expanded newborn screening (ENS), however, the risk of false negative results is not negligible. In Emilia-Romagna (Italy), during the first 10 years of screening experience, only three cases of CBSD identified have been diagnosed, all in the last two years (incidence 1:118,000 live births). We present the cases and a comprehensive review of the literature to emphasize the role of ENS for early diagnosis of CBSD and its potential pitfalls, reiterating the need for a more effective method to screen for CBSD.

Pediatric non‐Hodgkin lymphoma as a rare cause of spinal cord injury: When lymphoma hides in the canal

“…We report the unusual cases of two children with symptoms suggestive of acute myelopathy, who resulted both being affected by epidural NHL, followed in the Bologna hospital. 1 Although spinal cord compression represents a rare clinical presentation, NHL should always be included in the differential diagnosis of acute myelopathy in the pediatric patient, because any delay in the diagnosis and treatment could significantly affect the prognosis of this disease and the onset of long-term sequelae.…”

Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia: Study of a Cohort of Patients from a Single Italian Center

“…In our series of patients, the prevalence of TARTs was 31.4%. The data on the prevalence of TARTs in our region are interesting, especially since our region, Emilia-Romagna, one of the richest areas in Italy, has always been a pioneer in newborn screening and has been among the first regions in Italy to diagnose CAH at 48 h of life through DBS [ 11 , 12 ]. In Emilia-Romagna in particular, newborn screening for CAH was implemented as a pilot project from March 1980 to September 1983 and subsequently from February 1991 to today [ 13 ].…”