Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder that is either X-linked or autosomal recessive and is characterized by recurrent infections. The diagnosis is primarily based on the nitroblue tetrazolium dye reduction test. Here, we present the case of a 28-year-old pregnant woman with CGD who was diagnosed before marriage and who presented with recurrent subcutaneous skin and ocular infections. Following treatment with multiple antibacterial agents, including meropenem, her infections resolved, and she gave birth to a healthy baby girl at term. However, the newborn has now started to exhibit similar symptoms to those experienced by her mother. This case highlights the need for further studies on the potent

Background: Joubert syndrome (JS) is a very rare autosomal recessive disorder characterized by agenesis of cerebellar vermis, abnormal eye movements, respiratory irregularities, and delayed generalized motor development. Retinal dystrophy and cystic kidneys may also be associated with this clinical syndrome. The importance of recognizing JS is related to the outcome and its potential complications. This syndrome is difficult to diagnose clinically because of its variable phenotype. Its neuroimaging hallmarks include the characteristic molar tooth sign and bat wing-shaped fourth ventricle

ABSTRACT Pulmonary alveolar microlithiasis is rare infiltrative pulmonary disease characterized by intra-alveoli deposition of microliths. We present a familial case of an adult female with complaint of progressive shortness of breath on exertion. Chest radiograph showed innumerable tiny dense nodules, diffusely involving both lungs mainly the lower zones. High-resolution CT scan illustrated widespread intra-alveolar microliths, diffuse ground-glass attenuation areas and septal thickening predominantly in the basal regions. Chest radiograph is all that is needed for the diagnosis of this case but CT scan was done to demonstrate the extent and severity of this disease

Dicephalus parapagus twinning (DPT) is the rarest conjoined twinning entity of all conjoined twins. The presence of DPT is always associated with mortality before or after delivery. Antenatal diagnosis is crucial for planning labor, assembling a team, and providing counseling. Case presentation: A 23-year-old patient (G2P1A0) at 21 weeks of pregnancy attended the ultrasound clinic for routine care. A monoamniotic-monochorionic pregnancy was observed; the twin fetuses had two heads but one body, which corresponded to dicephalus parapagus twinning. A detailed ultrasound and fetal echocardiography reveal one heart without congenital anomalies. The liver, kidneys, and bladder appeared to be normally developed. Fetal MRI and karyotyping wer

Fibroepithelioma of Pinkus (FEP) is a slowly growing, low-grade malignant tumor with very low metastatic potential that is considered a distinct variant of basal cell carcinoma (BCC). It usually manifests as sessile or polypoidal lesions on the trunk of middle-aged patients. However, it may present in younger age groups, even in children. In this case, we present a rare case of FEP atypically presenting as a scaly plaque on the lower back for several years in an elderly female who was eventually diagnosed by excisional biopsy and histopathology.

HTH Ahmed Dheyaa Al-Obaidi,", Ali Tarik Abdulwahid', Mustafa Najah Al-Obaidi", Abeer Mundher Ali', eNeurologicalSci, 2023

Background: The adenomatoid odontogenic tumor is a relatively rare benign epithelial odontogenic tumor. It contains both epithelial and mesenchymal components. Few cases presented as an extrafollicular lesion or involve the mandible or associated with other odontogenic lesions. This paper represents a rare case of an extrafollicular AOT. Case presentation: A 24-year-old female had a painless swelling on the right side of the lower jaw since one-month duration. Intraorally there was a well defined fluctuant-blue swelling in the right alveolar premolar region measuring 1×2 cm obliterating the right lower buccal vestibule. Grade II mobility in the vital 44 and 45 teeth were observed. Panoramic radiographs showed a well-defined pear shaped