No abstract available.
Dysautonomia, Familial*

No abstract available.
Dihydroxycholecalciferols ; Pemphigus, Benign Familial

No abstract available.
Paralyses, Familial Periodic*

No abstract available.
Cryotherapy* ; Pemphigus, Benign Familial*

Riley Day Syndrome, also known as familial dysautonomia, is a rare reported entity characterised by disturbance of pain and temperature perceptions, inability to produce tears, labile blood pressure and poor growth due to disorder of the autonomic and sensory nervous system. It is an autosomal recessive condition with the genetic locus mapped to chromosome 9q31-q33. Traumatic fractures are common and due to lack of pain, may go unrecognised for prolonged periods of time, resulting in nonunion or pseudoarthrosis. Scoliosis is seen in up to 90% of the patients. Complications of are common in these patients and range from infection to wound breakdown to failure of fixation. We report a case (nineyear-old girl) of Riley Day Syndrome with general absence of pain and damage to the extremities to highlight this rare syndrome
Pseudoarthrosis ; Dysautonomia, Familial

Precocious puberty is defined as appearance of secondary sexual characteristics that begins earlier than usual, and may be central or peripheral in origin. It is the physician’s duty to undertake a detailed investigation of the cause of the condition so as not to overlook a potentially correctable pathologic lesion, and prevent long-term somatic and psychosocial consequences in the child. This paper presents a case of 10 year old female with clinical signs and symptoms and laboratory results that point to a possible peripheral type of precocious puberty , and with a huge ovarian mass, which intraoperatively yielded inconclusive histopathologic findings due to massive necrosis. This paper aimed to discuss the possible etiologies for the development of precocious puberty in the index case, and the treatment options for both precocious puberty and ovarian new growth.
Familial Testotoxicosis ; Puberty, Precocious

Amyloid Neuropathies, Familial ; Humans

A 15-year-old, Indian, female child of a second-degree consanguineous marriage, presented with polymorphic yellowish-brown nodular cutaneous lesions over the dorsal aspect of both elbows, knees (Figure 1A) and buttocks (Figure 1B). These were suggestive of xanthoma tuberosum and were first noted at 4 years old. There were no spots over the eyelids, acanthosis, skin tags or tendon xanthomas. Arcus juvenilis was not noted. A bilateral carotid bruit was appreciated.
xanthoma ; familial ; hypercholesterolemia ; LDL

No abstract available.
Codon, Nonsense* ; Pemphigus, Benign Familial*

Study on 210 patients including 120 atheromatous patients, 90 non-atheromatous patients at Transfusion Blood Center in HCMC. Research results showed that: the lipid-lipoprotein disorders had colleration to atheromatous. It was statistical. Hypercholesterolemia 62.6%, hypertriglycerid 51.6%, hypo HDL-C 48.3%, hyper LDL-C 45.8%. The lipid-lipoprotein disorders and atheroscelrosis on the over forty year old patients were higher than the young patients but there was no difference between male and female
Dyslipidemias ; Hyperlipidemia, Familial Combined ; Disease