Pediatrics and Neonatal Care

A seven year old Hispanic girl developed headache, backache and vomiting. A computed tomography showed 2 intracranial masses. A complete blood count was normal. Bone marrow aspiration showed hypoplastic but otherwise normal marrow. However, cerebrospinal fluid contained leukemic myeloblasts. Four and a half years earlier the patient had presented with an orbital mass, lethargy, and loss of appetite. MRI demonstrated a mass in left maxillary sinus extending to the left orbital cavity causing left proptosis. Bone marrow aspiration was diagnostic of Acute Myelogenous Leukemia (AML). She was treated with the standard AML chemotherapy regimen. Patient achieved complete remission and remained in remission during the subsequent 4 and a half years until the above event.  AML recurrence after 4 years of remission is rare. In addition this patient initially showed the recurrence only in the extramedullary site which is also unusual.  We postulate that the intracranial recurrence was due to late activation of latent leukemic cells that had seeded in the leptomeningeal space at the time of original presentation. Because of these 2 unusual aspects we wish to report this case.

Purpose: To compare infant and family demographics and weaning and discharge outcomes of infants with Neonatal Abstinence Syndrome (NAS) treated with morphine only versus treatment with morphine and phenobarbital in a post-acute care hospital setting. 

Design: Electronic medical record review of 76 infants with NAS admitted to a pediatric post-acute hospital from local tertiary-care neonatal intensive care units. Descriptive statistics were calculated for the total group and compared for two weaning medication subgroups (morphine only (n=25) and morphine and phenobarbital (n=51)). 

Result: Thirty-nine (51%) infants were male and 49 (65%) were White, non-Hispanic. Average admission age was 17.31 days.  Average length of stay (LOS) in the post acute care hospital was 35 days.  All infants began treatment before admission to the post-acute care hospital and 92% weaned from all medications before discharge. Group differences were found for admission age (p=0.04), discharge age (p=0.005), LOS (p=0.033), days to wean morphine (p=0.004) and referring acute care hospital (p=0.01). 

Conclusion: A greater number of infants in post-acute care required phenobarbital as well as morphine than morphine alone. These infants were older at admission, took longer to wean and stayed in the hospital longer, indicating a more difficult course.  

Background: 5-α-ReDuctase (5ARD) deficiency, is an autosomal recessive diseases, resulting in the inability to produce the physiologically active DiHydro Testosterone (DHT) which is required for normal virilization of the male external genitalia. 

Material and Methods: This is a retrospective, hospital based study conducted over a 25 year period (1989-2014) at King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia, where patient’s files with 46 XY, DSD diagnosed with 5-α-reductase deficiency were reviewed for the clinical characteristics and management. All patients were managed by an experienced multidisciplinary team. 

Results: During the period under review, a total of nine (16%) patients among the 56 patients, with 46 XY DSD were diagnosed hormonally, i.e. Human Chorionic Gonadotrophin (HCG) stimulated DHT / testosterone ratio of more than 35, to have 5-α-reductase deficiency. All patients presented with variable degrees of ambiguous genitalia. Unfortunately, three (33.3%) patients needed sex-reassignment. Their clinical characteristics and management were presented. 

Conclusion: In our community, with an increased prevalence of consanguineous matings and with multiple siblings, it is not that an uncommon to have such numbers of 5-α-reductase deficiency among those presenting with 46 XY DSD, and should be considered as an important differential diagnosis. A multi-disciplinary team approach is essential for a successful management and better prognosis.