Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature.

Rapadilino syndrome is a genetic disease characterized by a characteristic clinical tableau. It is caused by mutations in RECQL4 gene. Immunodeficienc...
656KB Sizes 1 Downloads 13 Views

Recommend Documents

Venous sinus thrombosis in a child with nephrotic syndrome: a case report and literature review.
Nephrotic syndrome is associated with a hypercoagulable state and an increased risk of thromboembolic complications. Cerebral venous sinus thrombosis is a rare complication of nephrotic syndrome, with few cases described in the literature, although t

Pyoderma Vegetans: A Case Report in a Child Suspected to Primary Immunodeficiency and Review of the Literature.
Pyoderma vegetans (PV) is a rare inflammatory disorder characterized by vegetating pustules and plaques affecting the skin and mucosal membranes. It is believed that this entity is mostly associated with inflammatory bowel disease (IBD), chronic maln

Posterior reversible encephalopathy syndrome in a child with steroid-resistant nephrotic syndrome: a case report and review of literature.
Posterior reversible encephalopathy syndrome (PRES) is a rare and serious syndrome of central nervous system that can develop in both adults and children. It is characterized by acute onset of headache, confusion, seizures or focal neurological defic

Joubert syndrome in a neonate: case report with literature review.
Joubert syndrome is a rare autosomal recessive disorder. It is characterized by congenital ataxia, hypotonia, developmental delay and at least one of the following features: neonatal respiratory disturbances and abnormal eye movements; including nyst

Karewsky syndrome: A case report and review of the literature.
Gallstone ileus can be a lethal disease, rarely suspected in the clinical scenario. It represents about 25% of all bowel obstruction cases in patients older than 65. There is a classification of gallstone ileus based on the onset time: acute, subacut

Ortner's syndrome: a case report and review of the literature.
We present a case of a 67-year-old man who was an active smoker, with a clinical history of ischaemic cardiopathy, hypertension, who presented to the emergency room with hoarseness of voice of 2 weeks duration. No other neurological or cardiorespirat

Jaguar attack on a child: case report and literature review.
Jaguar attacks on humans rarely occur in the wild. When they do, they are often fatal. We describe a jaguar attack on a three-year-old girl near her home deep in a remote area of the Guyanese jungle. The patient had a complex but, relatively, rapid t

Anaesthesia for a child with adrenoleukodystrophy: A case report and review of the literature.
We present a 9-year-old boy with X-linked cerebral adrenoleukodystrophy (X-linked ALD) and previous umbilical cord transplant who required general anaesthesia. An anaesthetic plan for each individual should be tailored to ensure the best possible ana

Collagenoma in a Patient With Down Syndrome: A Case Report and Review of the Literature.
A 26-year-old woman with Down syndrome presented with a 4-cm-sized palpable mass in the sacrococcygeal region. Histologic evaluation of the specimen revealed densely packed collagen fibers in the dermis, which is consistent with a collagenoma. Masson