Hereditary hemorrhagic telangectasia (HHT) or Rendu-Osler-Weber syndrome, is a rare genetic disorder with autosomal dominance and variable penetrance. The typical findings of the disease are telangiectasias in skin and mucous membranes, and arteriovenous malformations presenting in the organs like lung, intestine, brain and liver. It is characterized by the classic triad of recurrent epistaxis,...

is a rare and fatal hereditary disorder of unknown cause with multisystem involvement. Involvement of the central nervous system (CNS) is reported in approximately 30% of cases. Leptomeningitis, gliosis, demyelination, and lymphocyte and histiocyte infiltration of the cerebrum and cerebellum are the characteristic neuropathologic findings. We describe the serial brain MRI findings and neurologi...

Navajo neuropathy is a hereditary sensorimotor disease that occurs in members of the Navajo Indian tribe. It appears to be recessively inherited and becomes clinically evident in early childhood. Although initially described as a peripheral neuropathy with predominant involvement of myelinated axens [1] , we have encountered two patients with CNS abnormalities on MR imaging, indicating that thi...

Guillain-Barré syndrome is an autoimmune disorder o€en considered a postinfectious polyneuropathy involving mainly motor but also sensory and sometimes autonomic nerves. is syndrome a‚ects people of all ages and is not hereditary. Most patients in the United States and Europe have a demyelinating neuropathy, but primarily axonal degeneration is documented in some cases, mainly in China, Mexico...

Congenital Insensitivity to Pain belongs to the family of Hereditary Sensory and Autonomic Neuropathies (HSAN). It is a rare disorder of unknown etiology associated with loss of pain sensation. Cognition and sensation is otherwise normal and there is no detectable physical abnormality. We report a case of Congenital Insensitivity to Pain in a 3 year old female child.

Hereditary hemorrhagic telangiectasia is an uncommon autosomal dominant disease that occurs in approximately one in 5,000 to 8,000 persons. This multisystem disorder can affect the nose, skin, gastrointestinal tract, lungs, liver, and brain. Epistaxis is the most common presenting problem, occurring in 90 percent of affected patients. Approximately 15 to 30 percent of patients with hereditary h...

Ectodermal dysplasia is a rare hereditary disorder. Its Hypohidrotic (HED) variant is also known as ChirstSiemens-Touraine syndrome. It is inherited as an Xlinked trait. Such Patients are characterized by the clinical manifestations of Hypodontia, Hypotrichosis, Hypohidrosis and a highly characteristic facial physiognomy. This article, reports a typical case of Hypohidrotic Ectodermal Dysplasia...

Hemophagocytic lymphohistiocytosis (HLH) is a rare, severe, and often fatal disorder. Its hereditary and sporadic form can present as a significant diagnostic challenge to the otolaryngologist. This report describes two fatal cases of adult patients with HLH initially presented as infectious mononucleosis to an otorhinolaryngologist. The clinical presentation, serological and histological featu...

Osler-Weber-Rendu syndrome, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant disorder manifested by telangiectases of the skin and mucous membranes and arteriovenous malformations of various organ systems. We present a case of Osler-Weber-Rendu syndrome with 11 affected members in her family.

Treacher Collin Syndrome is a rare dominant congenital hereditary disorder. The syndrome is characterized by craniofacial deformities affecting about more than 1 in 50,000 births. Rehabilitating these patients involves a multidisciplinary approach with the prosthodontists rehabilitating various deformities involving the clinical features. This case report describes the rehabilitation of a suspe...