[Dactylitis, early onset of drepanocytosis and a predictor of a poor prognosis].
نویسندگان
چکیده
Sickle cell disease is an inherited monogenic disease. The most frequent form is due to a homozygous mutation in the S allele that encodes haemoglobin S. Its clinical course, while highly variable, is characterised by chronic haemolytic anaemia and vaso-occlusive events leading to early multiorgan failure. We present the case of a 7-month-old infant who was brought to the emergency department because of swelling in the left hand, with no evidence of preceding trauma, preserved spontaneous movement and no fever. The family was from Equatorial Guinea and the patient had resided in Spain since birth. The pregnancy, delivery and neonatal period had passed without complications. The patient was up to date with the routine immunisation schedule and had not been vaccinated against pneumococcus. There was no family history of interest. The physical examination showed that the patient was stable, with appropriate anthropometric values and vital signs. He had swelling in the dorsal aspect of the left hand that was tender to palpation, with no other signs of inflammation; examination of the remaining organ systems was normal. An initial radiographic examination (Fig. 1) revealed a periostic reaction at the fifth metacarpal bone. At this point, the differential diagnosis included bone tumour, osteomyelitis and bone infarction in the context of sickle cell disease. Laboratory analyses revealed a regenerative microcytic anaemia (haemoglobin [Hb]: 8.6 g/dL, mean cell volume 70 fL, reticulocytes 7.4%), with normal values for the rest of the complete blood count; normal coagulation,
منابع مشابه
Early onset radiation induced sarcoma of scalp: A case report
Radiation induced sarcoma is a rare but recognized complication of radiotherapy and is associated with poor prognosis, frequently occurs 5 years after completion of treatment. We report radiation-induced sarcoma in a 42 years old male, involving the left parietooccipital scalp region following treatment of brain tumor with craniotomy and post-operative radiation with 60Co machine. Diagnosis of ...
متن کاملSURVEY OF TEN CASES OF EARLY I NFANTILE EPILEP TIC ENCEPHALOPATHY (OHTAHARA SYNDROME)
Early infantile epileptic encephalopathy or EIEE (Ohtahara syndrome OS) is a kind of intractable seizure that begins in neonatal age with sudden onset of tonic spasms in series or single suppression-burst S-B in EEG.I Imaging shows anatomic defects such as migration disorders and generalized atrophy" with essentially normal metabolic tests. The seizures often change to West's syndrome (WS) ...
متن کاملBIRC5 Genomic Copy Number Variation in Early-Onset Breast Cancer
Background: Baculoviral inhibitor of apoptosis repeat-containing 5 (BIRC5) gene is an inhibitor of apoptosis that expresses in human embryonic tissues but it is absent in most healthy adult tissues. The copy number of BIRC5 has been indicated to be highly increased in tumor tissues; however, its association with the age of onset in breast cancer is not well understood. Methods: Forty tumor tiss...
متن کاملCombined Intratympanic and Systemic Steroid Therapy for Poor-Prognosis Sudden Sensorineural Hearing Loss
Introduction: The aim of this study was to evaluate the efficacy of combined intratympanic and systemic steroid therapy compared with systemic steroid therapy alone in idiopathic sudden sensorineural hearing loss (ISSNHL) patients with poor prognostic factors. Materials and Methods: Seventy-seven patients with sudden sensorineural hearing loss (SSNHL) who had at least one poor prognostic fa...
متن کاملComparing PET metabolic parameters with clinicopathological factors in predicting onset of early recurrence in recently diagnosed hepatocellular carcinoma
Introduction: Early recurrence of hepatocellular carcinoma (HCC) is a major risk factor affecting survival even after hepatectomy. Many clinical, biochemical parameters and pathological grading like fibrosis 1 index have been used for risk stratifying HCC. However not many studies have combined all of them. It is therefore important to risk stratify HCC especially with newer PE...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Anales de pediatria
دوره 82 4 شماره
صفحات -
تاریخ انتشار 2015