Project description:IntroductionRhabdomyosarcoma is a rare paediatric cancer, with the head and neck region representing a major anatomical site for rhabdomyosarcoma. In particular, orbital rhabdomyosarcoma is the most common region among children. However, rhabdomyosarcoma originating from the conjunctiva in paediatric population is a rare disease, and this knowledge is essential in order to ensure prompt treatment and early intervention.Case presentationWe discuss a rare case of primary conjunctival rhabdomyosarcoma in an 8-year-old Caucasian girl. She presented to a paediatric ophthalmology clinic with a 5-day history of a rapidly growing conjunctival lesion in the superior fornix of the right eye. An urgent excisional biopsy was performed which yielded a large 30-mm multilobulated, vascular, and papillomatous specimen with histopathological features consistent with embryonal rhabdomyosarcoma. She was urgently referred to oncology and was treated with systemic chemotherapy.ConclusionTherapeutical options and prognosis of rhabdomyosarcomas are based on clinical findings, tumour staging, and grouping, combined with histopathological and molecular features. Although rare, it is important to note that in the paediatric population, rhabdomyosarcoma can originate from the conjunctiva. Knowledge of its clinical, histopathological, and imaging characteristics is essential in order to achieve early diagnosis and timely treatment.

| S-EPMC10978040 | biostudies-literature

SHORT syndrome in a two-year-old girl - case report.

Project description:BackgroundSHORT syndrome is a rare genetic congenital defects condition. The frequency of the disease still remains unknown.Case presentationWe report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular depression, lipodystrophy at the lumbar region and around elbows), consistent with the phenotype described for this syndrome. The molecular analysis showed the presence of heterozygous variant c.1956dupT (p.Lys653*) in exon 15 of PIK3R1.ConclusionsThe frequency of the disease still remains unknown; solely several dozen cases have been described worldwide.

| S-EPMC5418728 | biostudies-literature

Iron-Refractory Iron Deficiency Anemia in an 11-year-old Girl.

Project description: Not available

| S-EPMC9121776 | biostudies-literature

Porphyric encephalopathy in a 15-year-old girl: A case report.

Project description:A 15-year-old girl presented with new onset tonic-clonic seizures, encephalopathy, abdominal pain, and hypertension with a history of weight loss and emesis. Brain magnetic resonance imaging scans showed diffuse, bilateral cortical and subcortical gray and white matter signal abnormalities. Electroencephalography showed background slowing and disorganization. Extensive evaluation for infection, toxic metabolic, autoimmune disorders, and vasculitis were negative. She was noted to have dark red-colored urine with no red blood cells. Her urine porphobilinogen level was markedly elevated, consistent with the diagnosis of acute intermittent porphyria. She was treated with intravenous hemin with resolution of her neurologic and gastrointestinal symptoms. A hydroxymethylbilane synthase (porphobilinogen deaminase) pathogenic variant was found in porphyria gene panel confirming the diagnosis of acute intermittent porphyria. This case demonstrates a diagnostic challenge posited by a presentation of new onset seizure and encephalopathy due to acute intermittent porphyria, a rare and often overlooked condition in pediatrics.

| S-EPMC11775956 | biostudies-literature

Intrathyroidal ectopic thymus in 8-year-old girl: a case report.

Project description:We provide a case report of two thyroid nodules in an 8-year-old girl, which revealed malignant ultrasonographic findings and which were confirmed as ectopic thymic tissue by total thyroidectomy. The ultrasound presentations of intrathyroidal thymus glands were similar to those of the malignant thyroid nodules. In addition, in this case, there were two ectopic thymus lesions in the thyroid gland, which undoubtedly increased the difficulty of diagnosis. The occurrence of multiple ectopic thymic lesions in the thyroid gland was different from previous reports. Therefore, clinicians should take into consideration this rare entity, and should not mistake it as a thyroid neoplasm; moreover, they should not perform extensive thyroid resection.

| S-EPMC7036638 | biostudies-literature

22-year-old girl with status epilepticus and progressive neurological symptoms.

Project description:A 22-year-old girl presented with convulsive status epilepticus and a previous history of recurrent seizures, myoclonus, ataxia and impaired cognitive functions. Neurological examination revealed rest and action-induced myoclonus, pyramidal signs and opposition hypertonia. Testing revealed severe metabolic acidosis, elevated transaminases and creatine kinase, and respiratory insufficiency. After intubation and ventilation, thiopental was introduced but the patient's condition worsened dramatically with death in a few hours. Autopsy showed profuse periodic acid-Schiff (PAS) positive intracellular inclusions in the CNS (Lafora bodies), most abundant in thalamus, cerebellum, and brainstem, as well as in other organs. Genetic testing revealed a homozygous missense mutation (c.205C > G, P69A) in the EPM2B (NHLRC1) gene, confirming the diagnosis of progressive myoclonic epilepsy Lafora-type.

| S-EPMC8094710 | biostudies-literature

Rare case of nephrocalcinosis in a 14-year-old girl: Answers.

Project description: Not available

| S-EPMC5334409 | biostudies-literature

16-year-old Girl with Diplopia and Unilateral Upper Lid Ptosis.

Project description: Not available

| S-EPMC4926576 | biostudies-literature