Introduction Periodic Fever, Aphthous stomatitis, Pharyngitis and Adenitis (PFAPA) syndrome is an autoinflammatory disorder of childhood and little is known about the underlying etiology. While mutations involving the IL-1 pathway have been identified in other recurrent fever disorders, including TNF-receptor associated periodic syndrome (TRAPS) and cryopyrin-associated periodic syndrome (CAPS)...

Sarcoidosis is a multisystem inflammatory disorder of unknown cause which can affect any organ system. Autosomal dominant lysozyme amyloidosis is a very rare form of hereditary amyloidosis. The Arg64 variant is extraordinarily rare with each family showing a particular pattern of organ involvement, however while Sicca syndrome, gastrointestinal involvement and renal failure are common, lymph no...

BACKGROUND Anemia is a common accompaniment of cerebral palsy, mental retardation and neurodegenerative disorders. CLINICAL CHARACTERISTICS A 4-year-old boy with chronic megaloblastic anemia, global developmental delay, seizures, intracranial calcification and new onset neuro-regression. OBSERVATION A diagnosis of hereditary folate malabsorption was made, and he was put on oral and injectab...

background: familial dysautonomia (fd) is a rare hereditary syndrome which is an autosomal recessive trait that typically affects jewish children. important signs and symptoms of the disorder include; diminished pain perception, absence of overflow tears, hypotonia, fainting cardiac arrhythmias and autonomic crisis. cases report : in this article we reported 3 cases of fd syndrome which had pre...

Ramsay Hunt's progressive myoclonus and epilepsy associated with dentatorubral degeneration is a rare disorder. We report a 19 year old woman with this clinical syndrome who also has a more mildly affected brother. Neuropathological in addition to dentatorubal involvement. The evidence suggests that this is a distinctive hereditary disorder producing neuromal degeneration at several levels in t...

Lipoprotein lipase (LPL) deficiency is a rare, hereditary disorder of lipoprotein metabolism characterised by severely increased triglyceride levels, and associated with an increased risk for pancreatitis. Since no adequate treatment modality is available for this disorder, we set out to develop an LPL gene therapy protocol. This paper focuses on the clinical presentation of LPL deficiency, sum...

Apolipoprotein A-1 (ApoA-1) amyloidosis occurs as a nonhereditary condition in atherosclerotic plaques, but it can also manifest as a hereditary disorder caused by mutations of the APOA1 gene. Hereditary ApoA-1 amyloidosis presents with diverse organ involvement based on the position of the mutation. We describe a case of ApoA-1 amyloidosis with a Glu34Lys mutation; testicular, conjunctival, an...

background caroli disease is a rare inherited disorder characterized by dilatation of the intrahepatic bile ducts. the presented case is a female middle age patient that during clinical and para-clinical evaluation for an unrelated compliant found that has caroli disease. although, the disease is hereditary but the family history was negative. after three years follow up, no involvement of kidn...

Pseudohypoparathyroidism is a rare inherited metabolic disorder that associated with parathormone resistance. Low serum calcium, high phosphates and raised levels suggesting resistance are biochemical characteristic features of . type 1 known as Albright’s hereditary osteodystrophy characterized by typical phenotype. This syndrome encompasses multiple clinical findings such brachydactyly, round...

BACKGROUND There is a high incidence of hereditary degenerative diseases of the central nervous system in purebred dogs. HYPOTHESIS Cerebellar ataxia in Malinois puppies, caused by degenerative changes that predominate in cerebellar nuclei and the granular cell layer, is a hereditary disorder that is distinct from cerebellar cortical abiotrophies. ANIMALS Thirteen Malinois puppies with cere...