Introduction: Congenital toxoplasmosis (CTox) is common in Malaysia and classically presents with brain and eye involvement, causing hydrocephalus, intracranial calcifications, cataract, chorioretinitis, blindness, epilepsy, and psychomotor or mental impairment. Cranial diabetes insipidus (CDI) and panhypopituitarism rarely complicate its clinical course. Case: From 2024 to 2026, we had encountered three cases of CTox infants, of whom 2 (C1, C2) had a stormy neonatal period and passed away by 3 months old due to refractory seizures, while the 3rd (C3) survived. C1 (2.2 kg) was diagnosed antenatally from fetal ultrasound brain with severe ventriculomegaly, whereas C2 (2.47 kg) had multiple syndromic features, cleft lip, palate and anopthalmos. C3 (2.6 kg) was only diagnosed later by 1-month-old when she had afebrile seizures. C1 and C2 had severe hypernatremia (Na >150 mmol/L) within 1st week of life, but C3 had hypernatremia after surgical drainage of her hydrocephalus and administration of steroids. All were diagnosed with CDI and fulfilled the triad of polyuria, hypernatremia and inappropriate paired osmolality. During acute period, they were managed with IV vasopressin infusion with intensive monitoring. At low dose (0.1–0.3 mcg/kg/hour), all achieved eunatremia and euvolemia within 12 hours with no inadvertent hyponatremia. They also had central hypothyroidism and received L-thyroxine, with prior oral hydrocortisone, except C1. Their CDI persisted with highest Na 165 mmol/L in C1. They were started on tab hydrochlorothiazide (HCTZ) alongside low renal solute load formula (LRSL) and EBM. HCTZ dose was titrated gradually from 0.5 to 1.0 mg/kg/dose and further to 1.5 mg/kg/dose. In between, subcutaneous desmopressin (DDAVP) 0.02–0.04 mcg were given during breakthrough DI. All cases responded to HCTZ at 1.5 mg/kg/dose, with varying intervals (daily to TDS). C3 went home after 6 weeks with HCTZ, L-thyroxine and hydrocortisone, together with oral anti-toxoplasmosis and anticonvulsants. Conclusion CTox with CDI presents a challenge during infancy, and a combination of LRSL with thiazide diuretics is an acceptable alternative, prior to definitive DDAVP therapy later.
oxoplasmosis, Congenital ; Hydrochlorothiazide ; Diabetes Insipidus

Introduction: We report an insidious presentation of hypocalcemic dilated cardiomyopathy (HDCM) in an infant with nutritional rickets and severe hypocalcemia, highlighting the myocardium’s strict reliance on calcium-phosphate homeostasis. Case: A 3-month-old, small-for-gestational-age male (birth weight: 1.93 kg), with congenital cataracts and persistent neonatal cholestasis (negative hepatopathy and congenital infection screens) presented acutely with post-feeding cyanosis, requiring intubation for aspiration pneumonia. The mother denied prior apneic episodes, seizures, feeding difficulties, or heart failure symptoms. Clinically, there was no murmur or hyperactive pericardium. Chest radiograph revealed globular cardiomegaly. Echocardiography confirmed HDCM (LVEF 41%). Bloodwork revealed profound hypocalcemia (1.16 mmol/L; normal 2.1–2.6), hyperphosphatemia (2.97 mmol/L), and markedly elevated alkaline phosphatase (2,411 IU/L). 25(OH)D3 was deficient (34.08 nmol/L). Secondary hyperparathyroidism (iPTH 19.55 pmol/L) represented an appropriate response. The mother had introduced goat’s milk instead of cow’s milk due to inadequate lactation. She took no supplements during pregnancy and was also vitamin D deficient. Management included IV calcium gluconate, targeted antifailure therapy (captopril, furosemide, spironolactone), and mechanical ventilation. High-dose cholecalciferol replenished depleted stores, alongside an active vitamin D analog (alfacalcidol) to bypass impaired hepato-intestinal pathways, stimulating calcium absorption. Extubated after 2 weeks with stabilized serum calcium, he was discharged on anti-failure therapy, oral calcium carbonate (54 mg/kg/day elemental), D-cure 25,000 IU 4-weekly, Ursodeoxycholic acid (45 mg 12-hourly), and multivitamins. Repeat echocardiography is planned at 3 months. Conclusion This case underscores the vulnerability to nutritional rickets and late-onset hypocalcemia in SGA infants with inadequate maternal nutrition and impaired GI absorption. The calcium-phosphate axis is easily disrupted; highphosphate substitutes (goat’s milk) precipitously unmask hypocalcemia, overwhelming compensatory hyperparathyroidism. Proactive, dual-therapy metabolic supplementation is paramount to avert catastrophic, yet reversible, HDCM.
Cardiomyopathies ; Rickets

Introduction: 46,XX testicular DSD is rare with incidence ~1 in 20,000 live births. Over 80–90% of cases are caused by translocation of SRY gene to X-chromosome or an autosome. Most present later in life with small testes, infertility and azoospermia. In SRY-negative cases, mutations in other genes (SOX9, NR5A1, etc) or duplications of SOX9 are implicated. Our reported case is SRY negative, presenting at birth. Case: We report a case of 1-year 4-month-old term baby with atypical genitalia at birth. External genitalia examination showed penoscrotal malformation, genital tubercle (2.5 × 1.5 cm) with chordae, single opening at perineum, and two palpable gonads within both upper labio-scrotal folds. External genital score is 8.5. Ultrasound of inguinal region and pelvis showed bilateral hypoechoic ovoid structure at bilateral inguinal region suggestive of testes, with the right testis measuring 0.4 × 0.8 cm and left testis measuring 0.4 × 0.7 cm. No mullerian structures or ovaries were visualized. Initial chromosome results (10 cells analyzed, 30 counted) reported 46, XX. Consultation with genetic pathologist and 2nd karyotype result still revealed 46, XX with FISH analysis confirming the absence of SRY. Mini-puberty screen (at 72 hours of life) showed follicle-stimulating hormone 3.5 IU/L, LH 1.72 IU/L, and testosterone 2.29 nmol/L. HCG stimulation test indicated adequate testosterone rise from 13 nmol/L (Day 1) to 29.38 nmol/L (Day 3), confirming the presence of functional Leydig cells. Serum AMH was within normal male range for age (421.3 pmol/L, 29–364 days: 235.5–1125.9). Gender is assigned as male and he recently underwent 1st stage hypospadias repair. Whole exome sequencing result is pending. Conclusion 46,XX testicular DSD, with a negative SRY, is rare, and early diagnosis at birth enables counseling for future concerns such as male infertility and hypergonadotropic hypogonadism. A multidisciplinary management (involving endocrinology, surgery/urology, and genetics) is needed to ensure understanding and emotional support.

Introduction: ABCD syndrome (ABnormal Calcium-CreatinineCalcinosis in Down syndrome) is a rare tetrad of hypercalcemia, hypercalciuria, nephrocalcinosis, and renal impairment in children with Down syndrome, often with delayed diagnosis resulting in irreversible renal damage. : We report a 7-year-old male with Down syndrome, who previously had a stormy neonatal period due to large atrialseptal-defect and pulmonary hypertension, and required surgery at 3-years-old with prior prolonged ventilation. He was since bedbound with severe spastic diplegia, complicated by GERD and food aversion, requiring nasogastric tube feeding. He was discovered to have hypercalcemia and renal impairment during admission in district hospital for febrile illness with gastrointestinal symptoms. Initial serum calcium was 2.78 mmol/L, phosphate 1.54 mmol/L, magnesium 0.96 mmol/L, ALP 210 IU/L, urea 18.6 mmol/L, and creatinine 266 umol/L. Renal impairment did not improve and ultrasound KUB revealed bilateral small kidneys with medullary nephrocalcinosis. Consultation with the paediatric nephrologist concluded as CKDstage-4. He was transferred to our centre. He demonstrated severe hypercalcemia (3.44 mmol/L), hypercalciuria (urinecalcium-to-creatinine-ratio of 1.17 mmol/mmol, >95 th%), and suppressed iPTH (0.9 pmol/L,1.6–6.9), suggesting PTH-independent process. 25-OH-Vit-D3 was 134 nmol/L (74–250, sufficient). He was more irritable and moody, but no seizures. ECG was normal. Skeletal assessment did not reveal osteolytic changes or increased resorption. He was investigated by paediatric hemato-oncologists, with negative findings, despite extensive search for hematological or bone malignancy and granulomatous disease. His ESR and immunoglobulin level was high for unknown reasons. He was treated with intravenous and oral hydration, dietary calcium restriction with modified lowcalcium formula, assisted by dietitian, and IV pamidronate infusion (0.125 mg/kg) stat dose, resulting in stabilization of serum calcium level (2.5 mmol/L), which persisted for about 8 weeks during follow-up. Conclusion ABCD syndrome should be considered in Down syndrome children presenting with unexplained hypercalcemia. Early recognition and intervention are vital.
ABCD syndrome ; Down Syndrome ; Hypercalcemia

Objectives: This study described and compared glycaemic changes with the use of the following Continuous Glucose Monitoring (CGM) metrics: time in range, time in hyperglycaemia and time in hypoglycaemia from retrospective CGM data among children and adolescents with Type 1 Diabetes Mellitus (T1DM), before and during Ramadan to better understand the impact of fasting during this season. Methodology: This study was conducted in 2 tertiary centres: Hospital Putrajaya (HPJ) and Hospital Universiti Sains Malaysia (HUSM) from February to May 2020. Muslim T1DM patients between ages 8 to18 who intended to fast during Ramadan were given Ramadan-focused education. CGM iPro2® (Medtronic) was used before and during Ramadan, complemented by finger-prick glucose monitoring or self-monitoring of blood glucose (SMBG). Results: Of the 32 patients, only 24 (12 female) were analysed. Mean age was 13.6 ± 3.1 years old, mean HbAlc was 9.6 ± 1.9% and mean duration of illness was 5.4 ± 3.4 years. Majority (91.7%) were on multiple dose injections (MDI) while only 8.3% were on continuous subcutaneous insulin infusion (CSII). All fasted in Ramadan without acute complications. Retrospective CGM analysis revealed similar results in time in range (TIR), time in hyperglycaemia and time in hypoglycaemia before and during Ramadan, indicating no increased hypoglycaemic or hyperglycaemic events related to fasting. Glycaemic variability before Ramadan as measured by the LBGI, HBGI and MAG, were similar to values during Ramadan. Conclusion Ramadan fasting among T1DM children and adolescents, by itself, is not associated with short-term glycaemic deterioration. T1DM youths can fast safely in Ramadan with the provision of focused education and regular SMBG.