Background: HERC2-related intellectual developmental disorder is a rare autosomal recessive neurodevelopmental condition, and its full phenotypic spectrum remains incompletely defined. Case Presentation: We report a 7-month-old female infant born to second-degree consanguineous p...
Open access
Research Article10.9734/ajpr/2026/v16i10582
Aims: To describe the clinical presentation and initial neuroimaging findings of an infant with giant congenital melanocytic nevus (GCMN) and multiple satellite lesions, and to emphasise the need for risk-based multidisciplinary follow-up despite normal baseline magnetic resonanc...
Open access
Research Article10.9734/ajpr/2026/v16i10583
Aims: To report an unusual presentation of suspected accidental 3,4-methylenedioxymethamphetamine (MDMA) intoxication as afebrile convulsive status epilepticus (CSE) in a toddler and to emphasise the importance of considering toxicological causes when conventional investigations...
Open access
Research Article10.9734/ajpr/2026/v16i11584
Background: Acute post-infectious glomerulonephritis (APIGN) is one of the most common causes of acute nephritic syndrome in children and is classically associated with Group A β-haemolytic Streptococcus infection. However, non-streptococcal pathogens may also trigger immune-medi...
Open access
Research Article10.9734/ajpr/2026/v16i10585
Background: Parents and guardians are central to the early recognition of communication difficulties in young children, yet caregiver understanding of language disorders and referral pathways may be incomplete. Objective: To describe parental knowledge of language disorders among...
Open access
Research Article10.9734/ajpr/2026/v16i10580
Background: Mother's own milk is the optimal nutrition for preterm infants admitted to the Neonatal Intensive Care Unit (NICU). Because most preterm infants are initially unable to breastfeed directly, effective and comfortable mechanical milk expression is critical for establish...
Open access
Research Article10.9734/ajpr/2026/v16i10581
Paediatric septic shock remains one of the largest contributors to childhood mortality worldwide, yet the field has changed more in how the condition is defined and detected than in how it is treated. The publication of the Phoenix sepsis criteria in 2024 replaced two decades of...
Open access
Research Article10.9734/ajpr/2026/v16i10579
Kawasaki disease (KD) is an acute, self-limiting systemic vasculitis that predominantly affects children younger than 5 years and may involve the coronary arteries. In young infants, incomplete or atypical presentations may complicate early recognition, particularly when classica...
Open access
Research Article10.9734/ajpr/2026/v16i10578
Aims: To describe an infant in whom early-onset seizures led to the diagnosis of 1p36 deletion syndrome and to emphasise the diagnostic contribution of whole-exome sequencing with copy-number variation analysis when the early phenotype is incomplete. Presentation of Case: A 2-mon...
Open access
Research Article10.9734/ajpr/2026/v16i10577
Aims: To describe a paediatric case of spontaneous periodic hypothermia (Shapiro's syndrome) occurring in the absence of agenesis of the corpus callosum, and to review the relevant literature and diagnostic approach. Presentation of Case: A 2-year-and-9-month-old boy, previously...
Open access
Research Article10.9734/ajpr/2026/v16i10576