Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 8 de 8
Filtrar
Más filtros













Base de datos
Intervalo de año de publicación
1.
BMC Pediatr ; 24(1): 327, 2024 May 11.
Artículo en Inglés | MEDLINE | ID: mdl-38773407

RESUMEN

INTRODUCTION: Donohue syndrome (DS), also referred to as leprechaunism, is a remarkably uncommon autosomal recessive disorder that primarily affects the endocrine system. Its incidence rate is exceedingly low, with only 1 case reported per 4 million live births. The syndrome is distinguished by a series of characteristic clinical features. CASE PRESENTATION: We present a case of a twenty-month-old male with DS who experienced a range of dysmorphic and clinical features with the involvement of multiple systems. These features include skin hyperpigmentation, hypertrichosis, distinct facial features, abdominal distension, and microcephaly, with the involvement of the endocrine, renal, respiratory, and cardiac systems. CONCLUSION: The primary features of DS involve severe insulin resistance and growth abnormalities, the association with pulmonary hypertension (PHTN) has not been reported before. This finding adds more complexity to the condition. To the best of the author's knowledge, this is the first report for a patient with DS who has PHTN. Further investigation is required since the mechanisms behind the development of PHTN in DS are not entirely understood. Shedding light on this association will contribute to better management strategies and outcomes for affected patients.


Asunto(s)
Síndrome de Donohue , Hipertensión Pulmonar , Humanos , Masculino , Hipertensión Pulmonar/etiología , Hipertensión Pulmonar/diagnóstico , Lactante , Síndrome de Donohue/complicaciones , Síndrome de Donohue/diagnóstico
2.
Int J Rheum Dis ; 27(1): e14878, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37592395

RESUMEN

Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) is a rare chronic inflammatory disease that develops in adults. We present a case of SAPHO syndrome in a 37-year-old male presenting with gradually worsening back and neck pain for a 7-year period. The episodes were preceded by a history of pustular skin eruptions, which first appeared on the upper trunk and then involved his face and were pustular and scarring. The purpose of presenting this case report from Iraq is to raise awareness about this rare condition, which is frequently misdiagnosed and under-recognized.


Asunto(s)
Acné Vulgar , Síndrome de Hiperostosis Adquirido , Osteítis , Sinovitis , Masculino , Adulto , Humanos , Síndrome de Hiperostosis Adquirido/complicaciones , Síndrome de Hiperostosis Adquirido/diagnóstico , Síndrome de Hiperostosis Adquirido/tratamiento farmacológico , Sinovitis/diagnóstico , Dolor de Espalda/diagnóstico , Dolor de Espalda/etiología , Piel , Acné Vulgar/diagnóstico
3.
eNeurologicalSci ; 33: 100486, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38053652

RESUMEN

Background: Dandy-Walker malformation or syndrome is the most common posterior fossa malformation. It is commonly associated with other congenital anomalies such as cardiac defects; however, association with a giant occipital meningocele is extremely rare, as only around 34 cases have been described. Case description: We report a case of a 2-month-old female infant who presented with a midline, gigantic mass in the back of the head. It was first discovered on a prenatal ultrasound. The mass measured about 15 × 5 cm, extending to the midback, not changing in size with crying, not attached to the back, and with a positive transillumination test. The diagnosis was confirmed after doing a brain computed tomography, which revealed hypoplasia of the vermis with an enlarged posterior fossa as well as cystic dilation of both ventricles with herniation through a bone defect. Conclusion: Our case highlights a rare association between giant occipital meningocele and Dandy-Walker syndrome that is rarely discussed or reported in the medical literature. By reporting this extremely rare case of Dandy-Walker syndrome associated with a giant occipital meningocele, we hope to contribute to the creation of a database for future research so that a management protocol can be established for use by clinicians and neurosurgeons for better management of the condition.

4.
Clin Case Rep ; 11(6): e7559, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37323252

RESUMEN

Key Clinical Message: Azathioprine, used for vasculitis and connective tissue diseases, carries long-term cancer risks. This case report raises awareness among healthcare providers about such risks and emphasizes the need for taking necessary precautions to avoid them while treating such diseases. Abstract: We present an Azathioprine-induced lymphoma case in a 51-year-old male patient with Takayasu arteritis who presented with painless cervical swelling, itching, weight loss, and decreased appetite. This case report aims to increase awareness of the potential long-term cancer risks associated with azathioprine use in the treatment of chronic diseases.

5.
Medicine (Baltimore) ; 102(14): e33456, 2023 Apr 07.
Artículo en Inglés | MEDLINE | ID: mdl-37026903

RESUMEN

RATIONALE: Pancreatic insulinomas are the most frequent pancreatic endocrine neoplasms. They are insulin-secreting pancreatic tumors that induce extreme, recurrent, and near-fatal hypoglycemia. Insulinomas affect 1 to 4 individuals in a million of the general population and account for about 1% to 2% of all pancreatic tumors. PATIENT CONCERNS: Recurrent episodes of sweating, tremor, weakness, confusion, palpitation, blurred vision, and fainting for 2 months and was misdiagnosed as having atrial fibrillation. DIAGNOSIS: He was misdiagnosed as having atrial fibrillation to highlight the importance of atrial fibrillation as unusual mimicker of insulinoma and to encourage clinicians about the importance of early and appropriate management in such cases. INTERVENTIONS: Endoscopic ultrasound for the pancreatic parenchyma was done, and it showed a hypoechoic homogenous mass located at the pancreatic head measuring 12 mm × 15 mm with no local vascular involvement, blue in elastography, hypervascular with Doppler study, and a normal pancreatic duct diameter. OUTCOMES: His condition was stable, and he was discharged home 2 days later. CONCLUSION: The diagnosis of insulinoma is usually difficult and late due to the extremely low incidence of the disease and the similarity of its clinical presentation to numerous other conditions, the most reported is epilepsy.


Asunto(s)
Fibrilación Atrial , Insulinoma , Neoplasias Pancreáticas , Masculino , Humanos , Insulinoma/diagnóstico por imagen , Insulinoma/patología , Fibrilación Atrial/diagnóstico , Irak , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/patología , Errores Diagnósticos
6.
Clin Case Rep ; 11(3): e7120, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36941840

RESUMEN

By reporting this case, we hope to encourage medical professionals to concentrate on diagnosing old patients with unusual presentation of rheumatoid arthritis.

7.
eNeurologicalSci ; 30: 100449, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36845277

RESUMEN

Background: An encephalocele is a congenital neural tube defect that is estimated to have an incidence of 1-2 cases per 10,000 live births. There have been a few cases of double encephaloceles reported in the medical literature. We report an extremely rare case of double encephalocele with an atrial septal defect in Iraq. Case presentation: A 2-month-old female infant presented with two swellings at the back of her head since birth. Her mother received poor prenatal care. The examination revealed a microcephaly head and two sacs in the occipital region, which were not connected and were covered completely by skin. The surgery includes a transverse incision, excision of both sacs with necrotic tissue, a duroplasty, and a water-tight dural closure. The operation proceeded without any neurological sequelae or cerebrospinal fluid leakage. Conclusion: Double encephalocele is a congenital neural tube defect that is rarely discussed or reported in the medical literature. The management of this condition might be difficult because it requires a special approach for each patient. This case report from Iraq is used to raise awareness about this particular disorder and to motivate clinicians about the importance of early and appropriate management for such cases.

8.
Clin Case Rep ; 10(12): e6775, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36545557

RESUMEN

This case report presents the first H-syndrome rarity in Iraq, a 12-year-old female patient who was attending the Rheumatology out clinic for progressive hands joint deformities. She has a history of a multi-systemic collection of diseases with various clinical features that include beta thalassemia minor, sensorineural deafness, and celiac disease.

SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA