We report the case of a male in his late teens who presented to our emergency department with acute generalised tonic-clonic seizures. Neurological examination, neuroimaging and laboratory tests confirmed severe hypocalcaemia, secondary to hypoparathyroidism, as the cause of his seizures. A detailed history was significant for recurrent urinary tract infections and epilepsy, accompanied by impaired academic performance and an intracardiac repair 8 years prior to presentation for a congenital cyanotic heart disease. Dysmorphic features on clinical examination, accompanied by the chronicity of complaints, led us to consider a genetic syndrome. On genomic microarray analysis (GMA), a 22q11.21 deletion was detected. The present case aims to highlight how commonly encountered laboratory findings, such as hypocalcaemia, can facilitate the identification of genetic associations like 22q11.2 deletion syndrome (22q11.2DS), a rare diagnosis in adulthood. In many cases, clinical problems may be managed in isolation without triggering a unifying diagnosis.

We report the case of a critically sick previously healthy 14-year-old girl who presented with subacute dry cough, respiratory distress, chest pain, hepatosplenomegaly, lytic bone lesions, splenic involvement, and bilateral chylothorax. Radiological evaluation established a diagnosis of Generalized Lymphatic Anomaly (GLA). The patient showed limited response to propranolol and pleurodesis but improved after initiation of sirolimus and vincristine. Notably, pleural fluid culture yielded Mycobacterium tuberculosis, leading to the addition of antitubercular therapy (ATT). The child subsequently demonstrated sustained clinical improvement with combined sirolimus and ATT. This case highlights the rare coexistence of GLA and tuberculosis, emphasizing the need to consider dual pathology when evaluating persistent pleural effusions in children.

We present a rare and yet unreported constellation of cardiovascular anomalies in a girl with DiGeorge Syndrome (DGS) and congenital athymia due to 22q11.2 deletion and describe her clinical course leading to corrective surgery. Cardiac findings included a large posterior malalignment ventricular septal defect (VSD), a severely hypoplastic aortic valve, and a proximal ascending aorta that continued as the right common carotid artery (RCCA). The aortic arch was right-sided and interrupted. From the main pulmonary artery (MPA), a right-sided patent ductus arteriosus (right PDA) continued as a right-sided descending aorta, which gave rise to the right subclavian artery (RSCA) and an aberrant left subclavian artery (LSCA). A left-sided PDA continued as the isolated left common carotid artery (LCCA). Only 18 cases of Isolated LCCA have been previously reported, none of which were associated with an interrupted right aortic arch. In this case, palliative cardiac catheterization was followed by corrective cardiac surgery and later successful thymic transplantation.

Background: Lymphatic malformations (LM) are rare congenital vascular anomalies caused by abnormal development and growth of lymphatic vessels. These malformations can lead to a wide range of symptoms, from mild swelling to more severe complications. Treatment options remain limited, especially for complex cases. Recent research has suggested that PIK3CA mutations play a key role in the pathogenesis of LM, potentially offering new possibilities for targeted treatment strategies. Methods: In this study, a cohort of 36 patients diagnosed with LM, Klippel-Trenaunay syndrome (KTS), and Proteus syndrome was analyzed. PIK3CA mutations were assessed in tissue samples obtained from the LM during clinically indicated procedures using digital droplet polymerase chain reaction (ddPCR), targeting five hotspots. Results: PIK3CA mutations were found in 18 patients (50%). The most frequent mutation was p.E542K (c.1624G>A), found in 19.44% of patients, followed by p.H1047R (c.3149A>G), p.E545K (c.1633G>A), and p.H1047L (c.3140A>T) each occurring in 11.11% of the cases. Mutations were more common in isolated LMs, with 63.16% of patients exhibiting PIK3CA mutations. Conclusions: PIK3CA mutations are common in LM, supporting the potential for targeted therapies like PI3K inhibitors in treating complex cases. This research highlights the importance of genetic analysis in the management of LM and offers a new therapeutic approach.

Lymphatic malformations (LMs) are low-flow vascular malformations of lymphatic origin that are typically diagnosed in childhood, with cervicofacial LMs posing particular risks for functional and cosmetic morbidity. Fewer than 10% of LMs present after adolescence, and adult-onset cervical cases are exceedingly rare, with only isolated reports in the literature. Adult-onset cervical LMs often mimic other cystic neck lesions, complicating diagnosis and delaying management. We report the case of a 20-year-old male who presented with a painless, slowly enlarging left upper neck mass. Ultrasound demonstrated a 3.2 × 3.0 × 1.4 cm multiloculated cystic avascular lesion, while contrast-enhanced CT revealed a 6.7 × 2.7 × 2.2 cm multiloculated cystic mass located between the parotid tail and the sternocleidomastoid muscle. MRI confirmed a T2-hyperintense, multiseptated lesion with areas of macroscopic intralesional fat and minimal enhancement, findings most consistent with LM rather than teratoma. Follow-up MRI nine months later demonstrated stability (2.7 × 1.2 × 3.7 cm). Active surveillance was chosen over intervention due to the patient's asymptomatic status, stable morphology, and the potential morbidity associated with surgical or sclerotherapeutic management. Adult cervical LMs remain diagnostically challenging due to overlap with branchial cleft cysts, ranulas, venous malformations, and cystic nodal metastases. The presence of intralesional fat can further complicate diagnosis, as it is more typically associated with dermoid cysts or teratomas, yet has been documented in LMs. Multimodal imaging is essential, with MRI offering the greatest sensitivity for delineating lesion extent. Management should be individualized: surveillance is appropriate in stable, asymptomatic cases, whereas progressive or symptomatic lesions may require sclerotherapy, surgical excision, or systemic therapies such as sirolimus or PI3K inhibitors. This case underscores the importance of including LM in the differential diagnosis of adult cervical cystic lesions and highlights that conservative management is often safe in clinically stable, asymptomatic patients.