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Neurofibromatosis 1

 Subject
Subject Source: Medical Subject Headings
Scope Note: Notes = An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. ,Created For = LHSA-Dott

Found in 21 Collections and/or Records:

PR2.1488, 1943

 Item
Identifier: LHB1 CC/24/PR2.1488
Scope and Contents

Typed case summary, charts and correspondence relating to female from Great Britain (excluding Scotland) aged 23 at first examination in 1943. Conditions mentioned include: von Recklinghausen's disease; paraplegia; and spinal cord compression. Nonsurgical treatment given. Patient discharged.

Dates: 1943

PR2.1636, 1943

 Item
Identifier: LHB1 CC/24/PR2.1636
Scope and Contents

Typed case summary, charts, autopsy report and correspondence relating to male patient from Scotland (outside Edinburgh and the Lothians) aged 17 at first examination in 1943. Conditions mentioned include: astrocytoma; headache; vomiting; scoliosis; fainting; spongioblastoma; and von Recklinhausen's disease. Nonsurgical treatment given. Patient died in hospital.

Dates: 1943

PR2.5409, 1947

 Item
Identifier: LHB1 CC/24/PR2.5409
Scope and Contents

Typed case summary, chart and correspondence relating to male patient from Edinburgh and the Lothians aged 14 at first examination in 1947. Conditions mentioned include: von Recklinghausen's disease; headache; nausea; epilepsy; vomiting; and glioma. No treatment given. Patient discharged.

Dates: 1947

PR2.8417, 1949-1952

 Item
Identifier: LHB1 CC/24/PR2.8417
Scope and Contents

Typed case summary, charts, notes, reports and correspondence relating to male from Edinburgh and the Lothians aged 30 at first examination in 1949. Conditions mentioned include: headache; failure of vision; unsteadiness; von Recklinghausen's disease; and meningioma. Surgical and nonsurgical treatment given. Patient discharged.

Dates: 1949-1952

PR2.9619, 1951-1962

 Item
Identifier: LHB1 CC/24/PR2.9619
Scope and Contents

Typed case summary, correspondence, charts, reports and notes relating to female from Edinburgh and the Lothians aged 24 at first examination in 1951. Conditions mentioned include: von Recklinghausen's disease; and neurofibromatosis. Surgical and nonsurgical treatment given. Patient discharged.

Dates: 1951-1962

PR3.1168, 1943-1947

 Item
Identifier: LHB40 CC/2/PR3.1168
Scope and Contents

Typed case summary and correspondence relating to female ATS member from Great Britain (excluding Scotland) aged 27 at first examination in 1943. Conditions mentioned include: Recklinghausen's disease; and soft neuro-fibroma (tumour). No treatment given. Patient discharged.

Dates: 1943-1947

PR3.1251, 1944

 Item
Identifier: LHB40 CC/2/PR3.1251
Scope and Contents

Typed case summary, charts and notes relating to male electrical engineer from Scotland (outside Edinburgh and the Lothians) aged 24 at first examination in 1944. Conditions mentioned include: generalised neurofibromatosis; ptosis of right eyelid; generalised muscular atrophy; and meningiomatous tumour. No treatment given. Patient discharged.

Dates: 1944

PR2.10489, 1951

 Item
Identifier: LHB1 CC/24/PR2.10489
Scope and Contents

Typed case summary, reports, charts, autopsy report, photographs and correspondence relating to female patient from Scotland (outside Edinburgh and the Lothians) aged 16 at first examination in 1951. Conditions mentioned include: von Recklinghausen syndrome; neurofibromatosis; astrocytoma; headache; failure of vision; neurofibromatosis; and hydrocephalus. Surgical and nonsurgical treatment given. Patient died in hospital.

Dates: 1951

PR2.15174, 1954-1955

 Item
Identifier: LHB1 CC/24/PR2.15174
Scope and Contents

Typed case summary, autopsy report, notes, reports, charts and correspondence relating to male from Scotland (outside Edinburgh and the Lothians) aged 33 at first examination in 1955. Conditions mentioned include: prolapsed intervertebral disc; sciatica; neurogenic sarcoma; and neurofibromatosis. Surgical and nonsurgical treatment given. Patient discharged.

Dates: 1954-1955

PR2.15302, 1955

 Item
Identifier: LHB1 CC/24/PR2.15302
Scope and Contents

Typed case summary, notes, charts and reports relating to male patient from Edinburgh and the Lothians aged 38 at first examination in 1955. Conditions mentioned include: Von Recklinghausen's Disease; birth deformity; kypho-scoliosis; stiffness; clumsiness; gait disorder; tremor; and weakness. No treatment given. Patient discharged.

Dates: 1955