ASIDE Case Reports
Not a member yet
23 research outputs found
Sort by
VACTERL Associated with Lung Hypoplasia and Urinary Anomalies in a 20-Month-Old Boy: A Case Report
Get PDFThe VACTERL association is a rare group of birth defects, including vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb defects, with an incidence of 1 in 10,000 to 40,000 live births. Infants with lung hypoplasia and urinary malformations face significant challenges. VACTERL requires three or more defects for diagnosis, with unclear causes possibly linked to genetic and environmental factors, including consanguinity. While pulmonary and genitourinary anomalies are not typical, they can coexist. This case is unique due to epispadias and bladder inversion, differing from typical urinary anomalies. We present a 20-month-old infant diagnosed with VACTERL along with left lung hypoplasia, bladder inversion, and epispadias. This rare case is the first documented in Syria, emphasizing the importance of recognizing VACTERL variations. Identifying such cases aids in understanding the condition’s complexity and guiding better management strategies
Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Protein, and Skin Changes (POEMS) Syndrome in the Middle East: A Case Report
Get PDFPOEMS syndrome is a rare paraneoplastic syndrome characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal protein gammopathy, and skin changes. We report the first case of POEMS syndrome in Egypt. We report a 37-year-old Egyptian male who presented with left lower limb pain, numbness, weight loss, and urinary incontinence. Laboratory evaluation revealed monoclonal IgA lambda bands and 10\% plasma cells on bone marrow aspiration. Nerve conduction studies confirmed severe sensory-motor polyneuropathy with axonal degeneration. Bone scan showed sclerotic changes, and imaging revealed hepatosplenomegaly. The patient met the diagnostic criteria for POEMS syndrome and was treated with the VRD protocol. Follow-up over 23 months showed declining M-band levels with eventual normalization. However, β2-microglobulin levels rose. The patient achieved a partial response and was referred for autologous bone marrow transplantation. This represents the first reported case of POEMS syndrome in Egypt, emphasizing the need for clinical awareness in non-endemic regions. A multidisciplinary approach is essential for optimal management. Further studies are needed to explore the presentation and management of POEMS syndrome in the Middle East and North Africa region
A Hidden Cause of Bone Fragility: Late Diagnosis of Hypophosphatasia in a 40-Year-Old Female
Get PDFHypophosphatasia (HPP) is a rare inherited metabolic disorder caused by loss-of-function mutations in the ALPL gene, leading to deficient activity of tissue-nonspecific alkaline phosphatase (TNSALP). This results in impaired bone and dental mineralization, causing a wide range of clinical manifestations, from perinatal lethality to mild adult-onset forms. We report a case of a 40-year-old female with a history of joint pain, multiple fractures, dental issues, and bipolar disorder, who was diagnosed with adult-onset HPP. Laboratory investigations revealed persistently low alkaline phosphatase (ALP) levels and elevated vitamin B6. Genetic testing confirmed a pathogenic ALPL mutation. The patient was initiated on enzyme replacement therapy (ERT) with asfotase alfa, resulting in significant symptom improvement. This case highlights the importance of recognizing HPP in adults with unexplained musculoskeletal symptoms and underscores the role of genetic testing in the diagnosis and management of this condition