Zinner syndrome comprises a triad of unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction, which can be accompanied by additional abnormalities of the genitourinary tract in some cases. Patients may be asymptomatic or present with urinary, reproductive, and/or local pain symptoms. Diagnosis is most commonly achieved via MRI.
View Article and Find Full Text PDFChiari zero malformation is a relatively new and rare subtype of Chiari malformations. Most of the patients present with signs and symptoms of Chiari malformation without actual cerebellar tissue herniation, with or without syringomyelia. Furthermore, Chiari zero cases can be associated with syringobulbia in rare instances.
View Article and Find Full Text PDFTrigeminal neuralgia (TN) is a debilitating yet potentially treatable facial pain disorder.TN is difficult to miss clinically, as patients' clinical presentation is often strikingly stereotypical: unilateral, paroxysmal, stimulus-dependent pain involving the trigeminal territory. Magnetic resonance imaging (MRI), which is used for further evaluation of an underlying etiology of TN, most commonly shows neurovascular compression of the trigeminal nerve to be the culprit.
View Article and Find Full Text PDFAntopol Goldman lesion is a renal pelvis subepithelial hematoma or hemorrhage, a sporadic disease. Although the causes are not well established yet, multiple factors were linked. Radiology is the cornerstone for the diagnosis.
View Article and Find Full Text PDFCongenital limb anomalies are rare. Acheiria is a congenital limb abnormality that presents as an absence of the hand and it is often diagnosed by prenatal ultrasonography. Herein we present a case of an 11-year-old female patient with acheiria.
View Article and Find Full Text PDFPrimary hyperparathyroidism is a disorder of increased parathyroid hormone secretion. Among various causes, parathyroid adenoma is one of the common causes. However, Cystic parathyroid adenoma is a very rare entity.
View Article and Find Full Text PDFCongenital renal anomalies are among the most common birth defects. They are often detected antenatally. If not, they can manifest in adulthood with variable clinical presentations.
View Article and Find Full Text PDFRenal arteries are the main blood supply to the kidneys. They originate from the abdominal aorta at the level of the first and second lumbar vertebrae. However, variations in their origin are common.
View Article and Find Full Text PDFJoubert syndrome is a rare heterogeneous disease affecting the cerebellum. It usually presents with hypotonia, abnormal breathing pattern, with distinctive cerebellar and brain stem malformation called the molar tooth sign. It may present with different organ involvement or with other neurological alterations such as Dandy-Walker syndrome.
View Article and Find Full Text PDFJoubert syndrome (JS) is a rare autosomal recessive disease affecting the cilium, an intracellular organelle. It has a wide spectrum of presentations with the involvement of multiple genes. JS has multiple subtypes that are either pure JS or JS with other organ involvement such as the kidneys, liver, and others.
View Article and Find Full Text PDFRenovascular hypertension (RVHT) is among the most prevalent causes of treatment-resistant hypertension. Mostly it is caused by renal artery stenosis (RAS). With atherosclerosis being the most common cause of RAS, RAS due to external compression by the diaphragmatic crus is rare.
View Article and Find Full Text PDFSturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome. It is described by the presence of leptomeningeal angiomas, ocular involvement such as choroidal hemangioma and glaucoma, and port-wine stain over the face. Management of SWS-associated ocular complications is challenging and needs regular follow-ups.
View Article and Find Full Text PDFThe ureters are muscular tubes that carry urine from the kidneys to the urinary bladder and are typically implanted in the superolateral angle of the trigone of the urinary bladder. Although renal anomalies are common, especially in the kidneys, ectopia of the ureter is rare. Clinical presentation depends on the insertion of the ectopic ureter, varying from asymptomatic (mostly in males) to recurrent urinary tract infections (UTIs) and incontinence (mostly in females).
View Article and Find Full Text PDFDyke-Davidoff-Masson syndrome (DDMS) is a rare disease affecting the brain with almost 100 cases previously reported, with only 21 cases among adults. Due to the intricacy of clinical manifestations and radiological findings, it is difficult to reach the diagnosis. It usually includes atrophy of the cerebral hemisphere, dilation of the lateral ventricle, hypertrophy of skull bones, and hyperpneumatization of air sinuses.
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