Decoding the Neurodevelopment and Seizure Puzzle: A Pediatric Case of DYRK1A Gene Mutation and Autosomal Dominant Mental Retardation Type 7.

Autosomal Dominant Mental Retardation Type 7 is a disorder caused by pathogenic variants in the DYRK1A gene. Clinical features associated with this gene mutation include focal dysmorphism, developmental delay, and epilepsy. In this report, we present a case of an 8-year-old boy with a DYRK1A gene mutation, whose clinical manifestations underscore the rarity and clinical challenges of this genetic condition. The patient is a known case of global developmental delay with intractable epilepsy on multiple anti-epileptic medications. Upon examination, the patient showed delayed developmental milestones, hypotonia with brisk deep tendon reflexes, as well as dysmorphic features in the form of microcephaly, deep-set eyes, prominent ears, and a short nose. MRI was done, and findings were suggestive of a DYRK1A gene mutation. The diagnosis was later confirmed by Whole Exome Sequencing (WES). Our report aims to contribute to the growing knowledge about DYRK1A mutations, facilitating a better understanding of the associated clinical features and implications for patient care.

A Young Girl with Acute Encephalopathy Who Presented with Status Epilepticus Following a Flu-Like Illness.

BACKGROUND Acute necrotizing encephalopathy of childhood (ANEC) is a rare form of acute encephalopathy in children that is characterized by rapid and progressive deterioration in the patient's clinical condition. Our aim in reporting the case is to highlight the importance of early diagnoses and aggressive early management of ANEC to achieve a better outcome. We report the case of a 5-year-old girl who presented with acute progressive encephalopathy with bilateral symmetrical thalamic involvement and brainstem lesion proceeded by a flu-like illness. CASE REPORT We report a 5-year-old girl who was previously healthy. She presented with rapid progressive encephalopathy and status epilepticus following a flu-like illness. Her magnetic resonance imaging (MRI) showed significance symmetrical bilateral thalamic enhancement with brainstem lesions, which is consistent with the diagnosis of ANEC of childhood, and her initial electroencephalogram (EEG) showed severe encephalopathy. Despite extensive management of ANEC, the patient showed a poor prognosis. CONCLUSIONS ANEC is a rare, specific, devastating condition in the pediatric population. Early diagnosis and aggressive management should be initiated immediately to avoid the high mortality associated with the condition. Furthermore, to highlight the importance of the clear history of the patient who presented with rapid and progressive deterioration in the level of consciousness and status epilepticus proceeded by viral illness, a rapid neuroradiological images such as brain MRI should be obtained to confirm the diagnosis of this rare condition. We also seek to increase awareness of this disorder among healthcare workers and general practitioners.

Unusual Presentation of Epstein-Barr Virus-Associated Cholestatic Hepatitis in an Infant.

Epstein-Barr virus (EBV) infections are prevalent in the pediatric population but are subclinical in the majority of cases. Elevated transaminases in the acute setting rarely increase beyond 5 times the normal upper limit. We present a girl aged 1 y with fever, vomiting, and diarrhea. Although initial physical examination was unremarkable, she developed jaundice, hepatomegaly, abdominal distension, and a maculopapular rash during admission. Laboratory investigations revealed marked increase in transaminases (alanine aminotransferase 7,664.5 IU/L, aspartate aminotransferase 12,266 IU/L), elevated γ-glutamyl transferase (224 IU/L), and hyperbilirubinemia (total 130.7 µmol/L, direct 104.9 µmol/L). Abdominal ultrasound reported hepatomegaly with mild ascites. Serology revealed that both Monospot test and EBV immunoglobulin G were positive. With supportive therapy, improvement was noted within a week of symptom onset. We hereby elucidate the importance of considering EBV as a cause of acute cholestatic hepatitis in a very young pediatric patient who develops a rapid elevation of liver enzymes.

Neuropsychiatric symptoms following sore throat in a young boy.

A previously healthy 6-year-old boy was referred to us by his primary provider, with a history of sudden onset behavioural abnormalities including irritability, sleep disturbance and anxiety. Physical examination revealed no significant findings; further analyses were not suggestive of meningitis, encephalitis, metabolic abnormalities, toxicity or any other obvious cause. On rechecking the patient's history, an episode of throat pain 1 week prior to the symptom onset was noted. Therefore, the possibility of paediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) was considered. The antistreptolysin O titre was high (1078 IU/mL), and it increased to 1194 IU/mL 4 weeks later, leading to a diagnosis of PANDAS. He was started on ampicillin and administered one dose of intravenous immunoglobulin. His abnormal behaviours subsided and he returned to a normal state within 48 hours of treatment. This report aims to provide insights into the symptomology and diagnosis of PANDAS in children.

A brain populated with space-occupying lesions: identifying the culprit.

This is a case of an 8-year-old girl who was previously healthy and presented with unresponsiveness on a background of fever that resolved within 2 days of onset. History was significant for recurrent dental abscesses requiring drainage. Imaging revealed what was unexpected: a brain overloaded with multiple space-occupying lesions and diffuse oedema. The patient was started on mannitol and dexamethasone in addition to antimicrobials. Her condition improved dramatically within few days. Multiple aspiration procedures were performed later and she recovered fully with minor deficits.