Two patients with congenital cervical spinal muscular atrophy had symmetrical severe muscle weakness and wasting confined to the upper limbs, areflexia and congenital contractures. The shoulders were internally rotated, elbows extended and wrists flexed. There were no sensory or bulbar symptoms, scoliosis, long tract signs or lower limb involvement. This condition should be regarded as a neurog...

Congenital Insensitivity to pain with anhydrosis (CIPA) is a rare inherited disease. It is classified as hereditary sensory and autonomic neuropathy type IV. Pain insensitivity and autonomic deficits are present, but touch and pressure sensitivity are unimpaired. Mental retardation is usually present. We report a family case of a 5 years old girl and 2 years old boy with congenital insensitivit...

purpose: to determine the effect of photorefractive keratectomy (prk) on improvement of involuntary eye movements and visual functions in myopic patients with congenital nystagmus. methods: this prospective interventional case series included patients with congenital nystagmus and myopia ≥ -1 d who underwent prk over a 2-year period. complete ophthalmological examinations including visual acuit...

There has been tremendous progress in the detection and diagnosis of hereditary neuropathies and while the genes responsible for these rare neuropathies have improved our understanding of the development of the sensory system, they remain clinical enigmas with rare occurrences and diverse presentations. In 1963, Swanson first described two brothers with congenital insensitivity to pain, anhidro...

A Kashmiri family with 3 members affected by a congenital sensory and autonomic neuropathy and corneal opacification is described. The 3 affected cases were offspring of consanguinous marriages in two generations; autosomal recessive inheritance is therefore probable. Pain and temperature sensation was lost in the limbs with a resulting mutilating acropathy. Sudomotor function was also impaired...

Spontaneous nystagmus in infants may be present at birth but more frequently appears in the first 6 months.' We present a classification in which nystagmus with an onset before 6 months is called early onset nystagmus (EON) and is divided into three categories: sensory defect nystagmus (SDN) in which there is a proven sensory impairment, congenital idiopathic nystagmus (CIN) (sometimes called '...

PURPOSE To evaluate factors associated with the direction of horizontal deviation in the sensory strabismus of patients with unilateral organic amblyopia. METHODS The medical charts of 53 patients who had been diagnosed with sensory strabismus between 2000 and 2009 were reviewed retrospectively. The underlying ocular disease, time of onset and the duration of vision impairment, refractive err...

First described in 1932 by Dearborn as 'congenital pure analgesia', congenital insensitivity to pain and anhydrosis (CIPA) or hereditary sensory and autonomic neuropathy (HSAN) type IV is an extremely rare autosomal recessive disorder. A 7-year-old female child who is an established case of congenital insensitivity to pain and anhydrosis visited the department of pediatric medicine with osteoar...