SARS-CoV-2 infection in a 7-year-old girl with pancytopenia during acute lymphocytic leukemia maintenance therapy.
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ABSTRACT:
SUBMITTER: Bernar B
PROVIDER: S-EPMC7435501 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BackgroundIt is not uncommon that a child with a febrile illness of unknown etiology is admitted to the hospital. When the complete blood count reveals a pancytopenia, the diagnostic process can be a real challenge.Case presentationA 13-year girl of Arab-Berber descent presented with abdominal pain and fever after a holiday in northwestern Morocco. A complete blood count revealed a pancytopenia and blood smear test results revealed spirochetes. Borrelia hispanica was identified by sequencing the 16S ribosomal ribonucleic acid gene. Our patient was treated with tetracyclines and during this treatment we saw full clinical and hematological recovery.ConclusionsBorrelia hispanica is a known cause of tick-borne relapsing fever and is transmitted to humans through the bite of soft ticks of the genus Ornithodoros (Alectorobius). Although the link between tick-borne relapsing fever and thrombocytopenia has been documented, there are only a few case reports of tick-borne relapsing fever presenting with pancytopenia. To the best of our knowledge, there is no previous report of Borrelia hispanica presenting with pancytopenia.
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Project description:SHORT syndrome is a rare genetic congenital defects condition. The frequency of the disease still remains unknown.We 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.The frequency of the disease still remains unknown; solely several dozen cases have been described worldwide.
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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.
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Project description:Acute respiratory distress syndrome (ARDS) is a rare complication of miliary tuberculosis, particularly in pediatric patients. Comorbidities and delayed diagnosis can worsen the prognosis of patients with miliary tuberculosis. A 12-year-old girl presented with fever for 20 days, and cough and tachypnea for 4 days. She was diagnosed with miliary tuberculosis complicated by pediatric ARDS. She had atypical clinical manifestations and imaging findings, a negative contact history, and negative results of a tuberculin skin test (TST) and T-SPOT.TB. Diagnostic bronchoscopy and bronchoalveolar lavage helped make the diagnosis of tuberculosis. Effective treatment was promptly initiated after confirmation of the diagnosis, and the patient's condition improved. This case illustrates that a negative contact history and laboratory results cannot rule out tuberculosis. False-negative TST and T-SPOT.TB results should be evaluated carefully. Bronchoscopy may be useful for identifying pathogens in patients with pneumonia of unknown etiology, and corticosteroids should be administered with caution.
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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.
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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.
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Project description:Echinococcosis, also called hydatid disease, is a parasitic disease that passes from animals to humans. Literature reports suggest very rare cases of cerebral hydatid cysts. Brain involvement with hydatid disease occurs in 1%-2% of all Echinococcus infections. In this report, we aim to emphasize the presentation of such an isolated primary cerebral hydatid cyst, discuss its radiological features, Emergency department management, inpatient medical management, referral to neurosurgery, consequent operative procedures, postoperative care, and outcome.
| S-EPMC6159100 | biostudies-literature
Project description:Pericarditis is a rare manifestation of tuberculosis and can be fatal. We describe a 15-year-old girl admitted for a large pericardial effusion. Subxiphoid pericardial biopsy was performed. Biopsy samples were positive for M. tuberculosis DNA by PCR, which confirmed the diagnosis of tuberculous pericarditis.
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