Congenital Hemolytic Anemia Because of Glucose Phosphate Isomerase Deficiency: Identification of 2 Novel Missense Mutations in the GPI Gene.

Glucose phosphate isomerase (GPI) deficiency is the second most common red blood cell enzymopathy involving the glycolysis pathway. It is an autosomal recessive disorder. Chronic hemolytic anemia is a common manifestation. The most severe one can present as hydrops fetalis. It can also be associated with neurologic dysfunction. We report a girl with severe hemolytic anemia at birth because of GPI deficiency. Enzyme activity assays were inconclusive because of previous blood transfusions. She was found to be compound heterozygous for 2 novel missense mutations, c.490C>A p.(Pro164Thr) and c.817C>T p.(Arg273Cys), in the GPI gene. Other than the chronic hemolytic anemia, she also has mild fine motor, gross motor delay, and developed cerebella ataxia since 5 years old.

Congenital intestinal fibrosarcoma with rapid recurrence requiring adjuvant chemotherapy.

A total of 16 cases of congenital fibrosarcoma have been reported from 1975 to March 2015. Five of the 16 had abnormal fusion between erythroblast transformation specific translocation variant 6 and neurotrophin recptor gene neurotrophic tyrosine kinase, receptor, type 3 (ETV6-NTRK3); in another five out of 16 this was absent, and six were not tested. All were managed by surgical resection but none involved metastasis. Herein we report the case of a newborn baby girl with congenital fibrosarcoma negative for ETV6-NTRK3 gene fusion, who presented with ileal perforation and positive resection margin. She had rapid recurrence with lymph node metastasis treated with postoperative chemotherapy. There was no further recurrence at >3 years of follow up.

Rare manifestation of hyperreactio luteinalis: when both the mother and baby girl are virilised.

Hyperreactio luteinalis is a benign, pregnancy-related condition with cystic enlargement of the ovaries and elevated androgen. However, only one-third of patients manifest as maternal virilisation and rarely does it cause fetal virilisation. Here, we report a virilised baby girl born to a virilised mother because of hyperreactio luteinalis. This case illustrates our management to maternal and fetal virilisation.

Native cardiac magnetic resonance T1 mapping and cardiac mechanics as assessed by speckle tracking echocardiography in patients with beta-thalassaemia major.

BACKGROUND: We hypothesize that cardiac magnetic resonance (CMR) native T1 is associated with myocardial deformation in thalassaemia patients. The present study aimed to compare CMR native T1 values to conventional T2* values in patients with beta-thalassaemia and to explore relationships between these CMR parameters of myocardial iron overload and left ventricular (LV) and left atrial (LA) myocardial deformation. METHODS: Thirty-four (16 males) patients aged 35.5 ± 9.2 years were studied. Myocardial T2* and T1 mapping were performed to assess the cardiac iron overload, while two-dimensional speckle-tracking echocardiography was performed in determine LV and LA myocardial deformation. RESULTS: T2* was 36.4 ± 8.7 ms with 3 patients having myocardial iron load (T2*<20 ms). The native T1 was 947.1 ± 84.8 ms, which was significantly lower than the reported normal values in the literature. There was a significant correlation between T1 and T2* values (r = 0.68, p < 0.001). There were no significant correlations between T1 and T2* values and conventional and tissue Doppler parameters of left ventricular systolic and diastolic function. On the other hand, T1, but not T2*, values were found to correlate negatively with maximum LA area indexed by body surface area (r = -0.34, p = 0.047) and positively with LA strain rate at atrial contraction (r = 0.36, p = 0.04). There were no associations between either of these CMR parameters with indices of ventricular deformation. CONCLUSIONS: In patients with beta-thalassaemia major, native T1 values are decreased, associated with T2* values, and correlated with maximum LA area and LA strain rate at atrial contraction.

Diabetic ketoacidosis in children with new-onset type 1 diabetes mellitus: demographics, risk factors and outcome: an 11 year review in Hong Kong.

OBJECTIVES: Diabetic ketoacidosis (DKA) is a life-threatening complication of type 1 diabetes (T1D). The aim of this study is to analyze the incidence, clinical characteristics, management and outcome of children presenting with DKA in new-onset T1D from 2008 to 2018 in Hong Kong. METHODS: Data was extracted from the Hong Kong Childhood Diabetes Registry. All subjects less than 18 years with newly diagnosed T1D from 1 January 2008 to 31 December 2018 managed in the public hospitals were included. Information on demographics, laboratory parameters, DKA-related complications and management were analyzed. RESULTS: In the study period, there were 556 children with newly diagnosed T1D in our registry and 43.3% presented with DKA. The crude incidence rate of new-onset T1D with DKA was 1.79 per 100,000 persons/year (CI: 1.56-2.04). Subjects presenting with DKA were younger (9.5 ± 4.5 vs. 10.5 ± 4.4, p=0.01) and had shorter duration of symptoms (4.2 ± 5.9 days vs. 10.6 ± 17.1 days, p<0.01). Regarding management, up to 12.4% were given insulin boluses and 82.6% were started on insulin infusion 1 h after fluid resuscitation. The rate of cerebral edema was 0.8% and there was no mortality. CONCLUSIONS: Younger age and shorter duration of symptoms were associated with DKA in new-onset T1D. Despite availability of international guidelines, there was inconsistency in acute DKA management. These call for a need to raise public awareness on childhood diabetes as well as standardization of practice in management of pediatric DKA in Hong Kong.

Acute lymphoblastic leukaemia presenting with galactorrhoea.

A teenage girl presented with galactorrhoea and moderate hyperprolactinaemia. She was subsequently diagnosed to have acute lymphoblastic leukaemia. Further investigations supported the presence of ectopic prolactin production as suggested by the presence of prolactin mRNA in the patient's marrow at diagnosis. Both the ectopic prolactin mRNA and galactorrhoea eventually resolved upon disease remission after treatment.