A rare disease: ZAP70 deficiency.

Zeta associated protein (ZAP) 70 deficiency is a rare disease. ZAP70 deficiency results in an autosomal recessive form of severe combined immunodeficiency (SCID) that is characterized by a selective absence of CD8 T cells. The diagnosis should be suspected in patients presenting with a severe combined immunodeficiency phenotype and selective deficiency of CD8 T cells. Sequencing of the ZAP70 gene can confirm the diagnosis. We wanted to emphasize that immunodeficiencies should also be remembered in the differential diagnosis by presenting a 5-month-old patient who applied to our clinic with complaints of skin rash and cough, was given respiratory support with mechanical ventilation for a long time, and was diagnosed with ZAP70 deficiency.

Acute rheumatic fever: 10-year single-center experience: clinical and laboratory findings, with subclinical carditis and treatment complications.

BACKGROUND: Acute rheumatic fever in childhood continues to cause serious morbidity despite all developments. The objective of this study was to evaluate the clinical and laboratory characteristics of patients with acute rheumatic fever and to determine the frequency of subclinical carditis and the side effects of the drugs used in the treatment. METHODS: The data of patients hospitalised between 2008 and 2018 with the diagnosis of acute rheumatic fever were included in the study. The relationship of gender and age with the frequency of major symptoms and the distribution of the drugs used in the treatment and their side effects were evaluated. RESULTS: Medical records of 102 patients with complete data were reviewed. 56.9% of the patients were male and the mean age was 10.7 ± 1.9 years. The most common distribution of complaints found were arthritis (51%), arthralgia (25.5%) and fever (16.7%). 10.8% of all patients (n = 11) were diagnosed subclinical carditis via echocardiographic evaluation. The frequency of carditis was higher in female patients with a borderline statistical significance (p = 0.05). However, there was no statistically significant difference between gender and arthritis (p = 0.22) and carditis (p > 0.05). Anti-congestive therapy was required in 22% and inotropic treatment was needed in 6.1% cases. Toxic hepatitis developed in four cases during the acetylsalicylic acid treatment. CONCLUSIONS: In a 10-year period, detection of subclinical carditis in 10.8% cases supported that echocardiography should be performed as a standard method for the diagnosis of acute rheumatic fever. Patients should be followed closely in terms of hepatic toxicity due to acetylsalicylic acid used in the treatment.

Evaluation of Pediatric Preseptal Cellulitis Cases Diagnosed with Meningitis by Magnetic Resonance Imaging.

Rhinosinusitis is a common infection and may rarely cause severe life-threatening orbital and intracranial complications. In this study, two cases with preseptal cellulitis and meningitis as a complication of rhinosinusitis were presented in the light of the literature. A nine years and two months old girl was admitted with complaints as fever, redness and swelling in the left eye. Physical examination revealed erythema and edema in the left lower and upper eyelids, and the eye movements were painless and normal in all directions. Her systemic examination was normal and there was no sign of meningeal irritation. Magnetic resonance imaging revealed ethmoid, frontal and sphenoid sinusitis and left cerebral hemisphere dural meningeal contrast enhancement. The patient was diagnosed with meningitis after lumbar puncture. After 14 days of appropriate antibiotic treatment, the patient recovered and was discharged. An eight years and five months old boy presented with fever, redness and swelling in the left eye was admitted. There were erythema and edema in the left lower and upper eyelid; the eye movements were painless in all directions and were complete. Systemic examination was normal; there was no sign of meningeal irritation. Pansinusitis and preseptal cellulitis findings were detected on computer tomography. The patient's fever persisted under treatment and erythema and edema of the eye became more evident. Orbital MRI was performed considering the complication and contrast enhancement was observed in the left frontal region. The patient was diagnosed with meningitis after lumbar puncture. After 14 days of appropriate antibiotic treatment, the patient recovered and was discharged. Intracranial complication due to preseptal sinusitis is rare but life-threatening. In these cases, we recommend the use of MRI as the radiological imaging method.

A rare structural myopathy: Nemaline myopathy.

Nemaline myopathy, which is characterized by the accumulation of ''rod'' bodies in muscle fibers is a very rare inherited muscle disease. According to the underlying mutation, the disease has varying severity of clinical outcomes. Patients with severe forms of the disease die because of hypotonia, feeding difficulties, aspiration pneumonia, and respiratory failure in the neonatal or infancy period. Mild forms of the disease present with walking-swallowing difficulties and respiratory distress in late childhood or adulthood. A two-and-a-half-month-old boy was monitored in our Pediatric Intensive Care Unit with hypotonia, pneumonia, and respiratory distress. Nemaline myopathy was diagnosed as the result of a muscle biopsy. An advanced molecular examination revealed heterozygous mutations in the skeletal muscle α-actin (ACTA1) gene, which is the second most common cause of this disease. Nemaline myopathy should be kept in mind in patients of all age groups with respiratory failure and walking difficulty secondary to muscle weakness.

Nemalin miyopatisi oldukça nadir görülen kalitimsal bir kas hastaligi olup kas liflerinde ''rod''(nemalin) cisimcigi birikimi ile tanimlanmaktadir. Hastalik altta yatan mutasyona ve mutasyonun kalitim biçimine göre degisen agirlikta klinik gidise sahiptir. Agir sekillerinde olgular yutma ve solunum kaslarinin etkilenmesi sonucu beslenme yetersizligi, aspirasyon pnömonisi ve solunum yetmezligi nedeni ile yenidogan ya da süt çocuklugu döneminde kaybedilmektedir. Geç baslangiçli hafif olgular yasam kalitesini bozan yürüme-yutma zorlugu ve solunum sikintisi ile geç çocukluk ya da eriskin yasta bulgu verebilmektedir. Hipotoni, pnömoni ve solunum sikintisi ile Çocuk Yogun Bakim Birimi'nde izlenen iki buçuk aylik erkek bebege kas biyopsisi sonucu nemalin miyopatisi tanisi koyuldu. Ileri moleküler inceleme sonucu hastaligin ikinci en sik nedeni olan "Skeletal Muscle α-Actin" (ACTA1) geninde heterozigot mutasyon saptandi. Yenidogan döneminden eriskin döneme kadar kas güçsüzlügüne bagli solunum yetmezligi ve yutma-yürüme güçlügü varliginda yapisal miyopatiler içinde nemalin miyopatisi akilda bulundurulmali, süphenilen olgulara kas biyopsisi ya/ya da genetik inceleme yapilmalidir.

Acute Hemorrhagic Edema of Infancy: A Two-Case Report.

Acute hemorrhagic edema of infancy is a leukocytoclastic small vessel vasculitis of young children that is limited to the skin, generally has a benign course without systemic involvement, and does not require treatment. It is characterized by fever, edema of the lower extremities, and wide purpuric rash of the skin. It typically affects infants aged 6-24 months with a history of recent respiratory system illness. An 11-month-old and a 57-month-old cases with acute hemorrhagic edema of infancy who concurrently have a lower respiratory system infection are presented in this case report.