Acute fatal ventricular arrhythmia induced by severe hyperkalemia in a toddler with decompensated methylmalonic acidemia.

BACKGROUND: Methylmalonic acidemia is a very rare genetic metabolic disease. Patients with isolated methylmalonic acidemia typically present with acute alterations of consciousness, failure to thrive, anorexia, vomiting, respiratory distress, and muscular hypotonia. Despite the evidence-based management, affected individuals experience significant morbidity and mortality. Hyperkalemia is one of the unusual complications of methylmalonic acidemia. CASE PRESENTATION: In this paper, we describe a 4-year-old Persian boy with methylmalonic acidemia who developed life-threatening arrhythmia following severe hyperkalemia and metabolic acidosis. Emergent management of the condition was successfully carried out, and the rhythm changed to normal sinus rhythm by effectively reducing the serum potassium level. We discuss the possible etiology of this lethal condition and describe its management on the basis of the available evidence. CONCLUSION: During metabolic decompensation in methylmalonic acidemia, frequent blood gas and electrolyte testing to prescribe and adjust therapy and annual echocardiogram and electrocardiogram screening are essential.

Bochdalek hernia presenting as recurrent fever and bicytopenia in a pediatric patient: A rare case report.

Bochdalek hernia is a rare condition characterized by the displacement of abdominal contents into the thoracic cavity. Due to the nonspecific nature of symptoms, prompt diagnosis, and management by emergency care providers can be challenging. Treatment of a Bochdalek hernia typically involves the reduction in the herniated contents back into the abdominal cavity. In this case report, we present the case of a 1-year-old girl who presented to the emergency department with a fever and bicytopenia. Further evaluation revealed a Bochdalek hernia, which was successfully managed with surgical intervention. This case highlights the importance of considering a Bochdalek hernia in the differential diagnosis of patients presenting with recurrent nonspecific symptoms (fever and bicytopenia).

An HIV-positive woman with massive brain lesion due to toxoplasmosis: A case report.

Key Clinical Message: Toxoplasmosis-related huge brain lesions may require decompressive craniectomy and lesion excision to avoid brain damage. In this situation, injectable cotrimoxazole is a better choice for treatment. Abstract: Toxoplasma gondii is a worldly distributed obligate intracellular protozoa. Toxoplasmosis is a prevalent opportunistic infection in HIV-infected people, but it was rarely recorded prior to the identification of HIV infection. Here, we report a toxoplasmosis brain lesion in an Iranian HIV-positive patient. A 45-year-old woman with a complaint of malaise was referred to the Valiasr Hospital in Arak city. In her past clinical history, the patient had a history of anemia, deep vein thrombosis (DVT), and positive HIV. The patient was informed of the diagnosis of massive brain toxoplasmosis as a definite diagnosis. The patient was then taken to the operating room for a left decompressive craniectomy, during which the ensuing brain lesion was excised. After a few days, she was discharged from the hospital in good condition and without any complications.

Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature.

Background: Primary deficiency of coenzyme Q10 deficiency-4 (CoQ10D4) is a heterogeneous disorder affecting different age groups. The main clinical manifestation consists of cerebellar ataxia, exercise intolerance, and dystonia. Case report: We provide a case of adolescence-onset ataxia, head tremor, and proximal muscle weakness accompanied by psychiatric features and abnormal serum urea (49.4 mg/dL), lactate (7.5 mmol/L), and CoQ10 level (0.4 µg/mL). Brain-MRI demonstrated cerebellar atrophy, thinning of the corpus callosum, and loss of white matter. Whole exome sequencing showed a homozygous missense mutation (c.911C>T; p.A304V) in CoQ8A gene which is a rare mutation and responsible variant of CoQ10D4. After supplementary treatment with CoQ10 50 mg/twice a day for 2 months the clinical symptoms improved. Conclusion: These observations highlight the significance of the early diagnosis of potentially treatable CoQ8A mutation as well as patient education and follow-up. Our findings widen the spectrum of CoQ8A phenotypic features so that clinicians be familiar with the disease not only in severe childhood-onset ataxia but also in adolescence with accompanying psychiatric problems.

HAV-induced acalculous cholecystitis: A case report and literature review.

Hepatitis A virus (HAV) has some life-threatening extrahepatic complications, such as acute acalculous cholecystitis (AAC). We present HAV-induced AAC in a young female, based on clinical, laboratory, and imaging findings, and conduct a literature review. The patient became irritable, which progressed to lethargy, as well as a significant decline in liver function, indicating acute liver failure (ALF). She was immediately managed in the intensive care unit with close airway and hemodynamic monitoring after being diagnosed with ALF (ICU). The patient's condition was improving, despite only close monitoring and supportive treatment with ursodeoxycholic acid (UDCA) and N-acetyl cysteine (NAC).

A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene.

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.

Streptococcus Viridans meningitis in an immunocompetent child: A case report.

In bacterial meningitis, the Viridans streptococci group is not considered a prevalent pathogen. In contrast, the S. viridans group may cause endocarditis and fatal infections in immunocompromised children and adults. We report a 5-year-old immunocompetent boy with signs of meningitis. The CSF tested positive for meningitis with streptococcus viridans.

A rare case of an immunocompetent patient with isolated pulmonary mucormycosis.

As one of the most lethal infections caused by fungi, pulmonary mucormycosis usually affects patients who are immunocompromised. Isolated pulmonary mucormycosis in immunocompetent patients is very rare.This report describes a 65-year-old immunocompetent man, who was first treated with antibiotics after being diagnosed with a lung infection, then after the lack of response to treatment, he was diagnosed with mucormycosis in further investigations. Finally, the patient died due to a lack of response to treatment. Despite its rarity, it is important to consider other differential diagnoses such as pulmonary mucormycosis if the pneumonic process does not respond to medical treatment.

A novel variant of Paganini-Miozzo syndrome: a case report.

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.

An unusual case of a toddler with Canavan disease with frequent intractable seizures: A case report and review of the literature.

Canavan disease is a rare fetal inherited leukodystrophy, caused by accumulation of N-acetyl-aspartate in the brain. Here, we report a child presented with frequent intractable seizures and visual impairment. A 14-month-old female infant with a complaint of the absence of neck holding and generalized tonic-clonic seizures was referred to our hospital. Macrocephaly, setting sun eyes, tremor, and hypotonia were observed. Funduscopy showed optic atrophy. Our patient's flash visual evoked potential showed blindness. Her brain magnetic resonance imaging showed diffuse white matter in subcortical, basal ganglia, and dorsal pons. Electroencephalography showed diffuse slow and sharp waves. The genetic study detected a hemizygous mutation in the aspartoacylase gene. Our patient was diagnosed with Canavan disease and began anticonvulsant treatment. However, seizures were not under control. Then, her medications were discontinued, and clobazam and primidone were administered. In conclusion, starting clobazam and primidone may help prevent frequently intractable seizures in Canavan disease patients.

Urinary tract infection caused by Edwardsiella tarda: a report of the first case in Iran.

BCKGROUND: Edwardsiella tarda, an Enterobacteriaceae family member, is prevalent in different aquatic settings and rarely infects humans. As a result of eating raw or undercooked seafood, humans become infected through their intestinal tracts. Extraintestinal infections have been reported infrequently, mostly in immunocompromised and chronically ill patients. CASE PRESENTATION: Our report describes a case of urinary tract infection caused by E. tarda in a 4-year-old female patient with a history of urinary tract infection and a complaint of fever, dysuria, and frequency. E. tarda was identified as the pathogen isolated from the urine culture. The patient's symptoms were alleviated after receiving ceftriaxone and then nitrofurantoin. CONCLUSION: This case demonstrates that even in immunocompetent patients, E. tarda can infect extraintestinal organs, including urinary tract. Our patient represents the first case of E. tarda infection in Iran and due to the fact that this pathogen is transmitted by aquatic animals, there is a possibility of infecting more aquatic animals and humans in Iran; therefore, the necessary precautions should be taken.

Cerebrovascular accident in a child with precursor B-cell acute lymphoblastic leukemia and coronavirus disease 2019: a case report.

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.

Isolated psoas abscess caused by Mycobacterium tuberculosis: A rare case report.

Psoas tuberculosis abscess is very rarely detected primarily without an adjacent vertebral cold abscess. Early diagnosis prevents unnecessary operations and life-threatening complications.