Complex mitochondrial disease caused by the mutation of COX10 in a toddler: a case-report study.

Introduction and importance: Cytochrome C oxidase (COX) deficiency is an uncommon inherited metabolic disorder. It is identified by a lack of the COX, also known as Complex IV. This enzyme plays a crucial role in the rate-limiting and oxygen-accepting step of the respiratory chain within the subcellular structures called mitochondria. The deficiency of COX can either be restricted to skeletal muscle tissues or can impact multiple tissues throughout the body. Case presentation: A 3-year-old girl was admitted due to muscle weakness and a decline in developmental milestones 7 days after a significant stressor. Leukodystrophy was observed in the brain magnetic resonance imaging, and genome sequencing identified a homozygous mutation in exon 1 and 7 of chromosome 17. This mutation led to a deficiency in COX10, which is a component of mitochondrial complex IV. Clinical discussion: In the medical field, inherited metabolic disorders can be complex to diagnose due to overlapping symptoms with other conditions. Mitochondria's oxidative phosphorylation system, including the COX enzyme complex, plays a crucial role in energy production. Mitochondrial disorders, including COX deficiency, can present at various stages of life with diverse symptoms. Treatment options focus on supportive care and potential benefits from supplements like coenzyme-Q10 and small-molecule therapies targeting mitochondrial function. Identifying genetic mutations is key for advancing treatments in this area. Conclusion: This report presents a unique case of developmental regression and muscle weakness in a paediatric patient, which can be attributed to a rare occurrence of type 3 nuclear mitochondrial complex IV deficiency.

An unusual imaging presentation of pediatric bacterial meningoencephalitis: a case-report study.

Background: Bacterial meningoencephalitis is a serious infection affecting the brain and its surrounding membranes. While imaging studies play a crucial role in diagnosing this condition, the typical radiological findings are well-documented. However, this case report describes an unusual imaging presentation that deviates from the expected patterns, emphasizing the need for awareness of such variations. Case presentation: A 7-year-old female with no prior medical history was referred to our hospital with fever, seizure, and loss of Consciousness. She had mild flu a week before admission. The duration of seizure episodes were 2-3 min, with tonic-clonic uncontrollable jerky movements. Brudzinski and Kernig signs were positive and plantar reflex was upward bilaterally in the physical examination. The computed tomography (CT) scan showed brain ventriculomegaly/hydrocephalus, and MRI findings indicated multiple foci located at cerebellum, basal ganglia, and thalamus alongside intensely restricted diffusion of the layering debris, suggesting pyogenic ventriculitis. Cerebrospinal fluid (CSF) analysis showed severe hypoglycorrhachia, despite non-significant increase of protein. The patient was undergone antibiotic therapy with ceftriaxone, vancomycin and rifampin, resulting in normalization of CSF values. Conclusion: This case report highlights the importance of recognizing and interpreting unusual imaging presentations of bacterial meningoencephalitis in paediatric patients. It emphasizes the need for a comprehensive diagnostic approach, including clinical evaluation, laboratory tests, and imaging studies, to ensure accurate diagnosis and appropriate management of this potentially life-threatening condition. Further research and awareness of atypical imaging findings are warranted to enhance our understanding and improve patient outcomes.

Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature.

INTRODUCTION: Biotinidase deficiency (BD) is an inherited autosomal recessive metabolic disorder. BD has been associated with optic nerve atrophy, eye infections, and retinopathy. The most prevalent ophthalmic manifestation of BD is optic atrophy, which might be misdiagnosed as multiple sclerosis or neuromyelitis optica, especially in late-onset BD cases. METHODS: In this article, we report a 9-year-old boy with gradual vision loss. Ophthalmologic examination, Brain MRI, and several laboratory tests such as Aquaporin-4 IgG level and biotinidase level were done on the patient. RESULTS: Bilateral optic atrophy and impaired visual acuity were detected on examination. The patient had a biotin level of 1.25 U/min/ml (normal range 3-9 U/min/ml), favoring the BD. CONCLUSION: In this study, we report a 9-year-old boy with vision loss diagnosed with BD. We also reviewed the literature to highlight the ophthalmic manifestations of BD. Ophthalmologists must consider BD in children with unexplained ophthalmologic complaints, especially when other characteristic signs of BD (e.g., developmental delay, seizure) are present. Also, patients with BD should undergo regular annual ophthalmologic examinations to be checked for any signs of eye involvement.

Pediatric acute hydrocephalus developing after tubercular meningitis: a case report study.

Background: Tuberculosis ranks second as the most common cause of death among infectious diseases, preceded only by COVID-19, which can involve multiple organs. Tuberculous meningitis (TBM) is known to have serious and atypical complications affecting the central nervous system, especially in more vulnerable populations such as children and adolescents. Case presentation: The 15-year-old female patient was admitted to the hospital with altered mental status after complaining of nausea, weakness, and cough for 3 weeks. A chest computed tomography (CT) scan showed cavitary lesions, a lumbar puncture sample had a glucose level of 15 mg/dl, and the brain CT scan revealed acute hydrocephalus. While the patient was treated with anti-tubercular medications, an external ventricular drain was placed and the patient was monitored. Conclusion: This report presents acute hydrocephalus as a rare and atypical consequence of disseminated tubercular infection resulting in meningitis.

Neurodevelopmental outcomes of the West syndrome in pediatric patients: The first report from the Middle-East.

BACKGROUND: This study aimed to investigate the clinical characteristics and neurodevelopmental outcomes of children with West syndrome (WS) by using the Bayley-III scale of infant development, as the first report from the Middle-East. METHODS: Between January 2013 and February 2016, we prospectively enrolled 67 consecutive patients with a confirmed diagnosis of WS from Isfahan, Iran. Cognition, language and motor outcomes of the studied subjects were evaluated with the Bayley Scales of Infant and Toddler Development-Third Edition (Bayley-III). RESULTS: Overall, 67 cases, including 34 (50.7%) boys and 33 (49.3%) girls (a male/female ratio of 1.03), were enrolled for the study. The mean age was 26.7 ± 12.9 months. Among the subjects, 50 (74.6%) patients had symptomatic WS, and 17 (25.4%) patients had cryptogenic WS. "Severe delay" was found in 76.9% of the patients regarding cognitive evaluation, 67.7% for language and communication abilities, and, 81.5% for motor function. The patients with cryptogenic WS were significantly more likely to have more favorable outcomes in motor (p = 0.035), cognitive (p = 0.035) and receptive language (p = 0.043) in comparison to those who had symptomatic WS. The patients with controlled seizures were significantly more likely to have more favorable outcomes in motor (p = 0.027) and cognition (p = 0.011) as compared to those with uncontrolled seizures. CONCLUSION: WS was associated with poor neurodevelopmental outcome in our study. Severe developmental delay was associated with two major factors: (i) presence of a specific underlying abnormality (symptomatic WS) and(ii) persistent seizures as a result of the former.

Wegener's granulomatosis and mucoromycosis: A case study and review of literature.

Mucormycosis is a fatal invasive infection which mostly involves diabetic or immunosuppressed patients. Early diagnosis, improving immunosuppression, systemic antifungal therapy, and surgical debridement are necessary for successful treatment. In this case study, we represent a known case of Wegener's granulomatosis (WG), with concomitant sinusal mucormycosis mimicking vasculitic disease relapse, which was successfully treated with surgical debridement, amphotericine, and intravenous immunoglobuline.

Prevalence of autoimmune thyroiditis in patients with polycystic ovary syndrome.

INTRODUCTION: Hypothyroidism is associated with pregnancy complications both for the mother and progeny and it should be considered in reproductive age. Thyroid autoimmunity is stated to be the main cause of hypothyroidism in iodine sufficient areas. Polycystic ovary syndrome (PCOS) is known as the most common endocrine disorder affecting women in reproductive age. Early diagnosis and treatment of hypothyroidism in PCOS may reduce the rate of infertility and pregnancy-related morbidity. In the present study we evaluated thyroid autoimmunity in PCOS patients. METHODS: Over a period of 12 months, 78 patients with PCOS were recruited to this case-control study. Three hundred and fifty age-matched women were studied as a control group. PCOS was defined according to the revised 2003 Rotterdam criteria. Thyroid size was estimated by inspection and palpation. Serum thyroid stimulating hormone (TSH), anti-thyroperoxidase antibody (anti-TPO Ab), and anti-thyroglobulin antibody (anti-Tg Ab) were measured. RESULTS: The mean ± SD of serum anti-TPO Ab in PCOS patients and subjects in the control group was 216 ± 428 and 131 ± 364 IU/mL, respectively (P = 0.04). Prevalence of goiter in PCOS patients was higher than that in control subjects (62.3 vs. 35.7%, P = 0.0001). Serum TSH and anti-Tg Ab in PCOS patients and control subjects did not differ significantly. CONCLUSION: In this case-control study, anti-thyroid antibodies and goiter prevalence were significantly higher in PCOS patients. These data suggest that thyroid exam and evaluation of thyroid function and autoimmunity should be considered in such patients.