Background Coronavirus disease 2019 can lead to rare but severe and life-threatening diseases in susceptible high-risk populations, including patients with immunodeficiency. A rare event in this report is stroke following COVID-19 disease in a patient with an immunocompromised background due to leukemia and anti-cancer treatments. Case presentation A 6-year-old iranian girl with precursor B-cell leukemia receiving vincristine therapy presented with fever and absolute neutrophil count < 500. Her severe acute respiratory syndrome coronavirus 2 polymerase chain reaction test was positive. During hospitalization, she had abrupt onset tachypnea, reduced O2 saturation, and generalized tonic–clonic seizures treated with phenytoin and levetiracetam. Right parietal lobe ischemia was found on a brain computed tomography scan, and the cerebrospinal fluid polymerase chain reaction test was positive for severe acute respiratory syndrome coronavirus 2. Several days later, she developed lower extremity paralysis and speech impairment, so speech therapy and physiotherapy were initiated. The patient also received dexamethasone, mannitol, heparin, and remdesivir. She was discharged with enoxaparin and levetiracetam. Chemotherapy resumed 2 weeks following discharge. Her speech and walking improved after 10 months of follow-up, and bone marrow aspiration showed total remission. Conclusion Owing to the link between coronavirus disease 2019 and hematologic cancers with hypercoagulopathy and the tendency of patients with leukemia to have coronavirus disease 2019 complications, children with leukemia as well as suspected coronavirus disease 2019 must be hospitalized to prevent blood clot formation.
Cerebrotendinous xanthomatosis ( CTX) is a rare hereditary disease described by a mutation in the CYP27A1 gene, which encodes the sterol 27-hydroxylase enzyme involved in the synthesis of bile acid. Accumulation of cholesterol and its metabolite, cholestanol, in multiple body organs causes the symptoms of this disease. In addition, a mutation in the COG8 gene, which encodes a subunit of conserved oligomeric Golgi (COG) complex, causes another rare disorder attributed to type IIh of congenital disorder of glycosylation ( CDG). We described a rare case of CTX disorder associated with a mutation on COG8 gene, which presented by unusual symptoms.
Paganini-Miozzo syndrome (MRXSPM) is a rare neurogenetic disorder that is transmitted by X-linked recessive inheritance. This is the third case reported of this disease in the world with a novel variant. A boy was referred due to the absence of neck holding and hand tremors. The examinations found facial anomalies. The brain magnetic resonance imaging (MRI) showed cerebral atrophy and diffused white matter, and irregularities were seen in his electroencephalogram (EEG). The echocardiography revealed a mid-muscular ventricular septal defect. A whole exome sequencing (WES) analysis revealed a novel variant (c.979C > T; p.Pro327Ser) of uncertain significance in the HS6ST2 gene indicating Paganini-Miozzo syndrome. The current case provides additional evidence that MRXSPM can be associated with various neurological and cardiac complications. It is essential to rule out other causes, such as metabolic and infectious diseases. EEG, MRI and WES analyses can help to make a definitive diagnosis.
Background: Congenital pulmonary lesions may be diagnosed through ultrasonographic screenings or be revealed as causes of respiratory distress in the neonatal period and infancy. Less commonly, they are detected as incidental features. Objectives: Our study represents the diversity of congenital pulmonary lesions and their characteristics during an 11-year period in a referral teaching children's hospital in Tehran, the capital city of Iran. Methods: Data from an 11-year period of patients with the final diagnosis of congenital pulmonary lesions in Mofid Children's hospital were reviewed. The data included the prenatal ultrasonographic, postnatal radiographic, and pathologic diagnoses, along with the patient's age, way of presentation, length of hospitalization, and accompanying features and morbidities. Results: Of 37 cases of congenital pulmonary lesions, 28 cases (75%) were boys. Thirty-six cases (97.2%) presented with pure pulmonary signs and symptoms. Of these cases, 16 (43.2%) were neonates, 17 (46%) were infants, and 4 (10.8%) were children. Twentyseven (73%) patients missed the opportunity for early diagnosis. In order of frequency, cases were diagnosed as congenital lobar emphysema (43.5%), congenital cystic adenomatoid malformation (32.5%), pulmonary sequestration (19%), hybrid lesion (2.5%), or bronchogenic cyst (2.5%). Conclusions:In an analysis of retrospective data of 37 congenital pulmonary lesions, male predominance was obvious, as has been found in previous studies.
The usual features of the acrocallosal syndrome (ACLS) are agenesis of the corpus callosum, mental retardation, prominent craniofacial deformities, and specific digital abnormalities. We discuss the case of a neonate with ACLS-consistent characteristics. The occurrence of this syndrome may have been caused by maternal exposure to cosmetics-related substances during pregnancy.
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