Central nervous system arteriovenous malformations in multiple generations of a family with hereditary hemorrhagic telangiectasia

Abstract

Hereditary hemorrhagic telangiectasia is described in four generations of a kinship. The family is unique in that three generations manifest central nervous system vascular disease, which was pathologically confirmed in two generations. Genetic linkage was not identified for 32 genetic markers studied. The literature is reviewed for patients with central nervous system arteriovenous malformations and hereditary hemorrhagic telangiectasia. The pathogenesis of the disease is discussed, and therapeutic modalities are considered.

Familial multiple lateral telangiectatic nevi (port‐wine stains or nevi flammei)

“…The occurrence of MTN in families has also been reported (Shafer & Doig 1955, Zumkeller 1957, Merlob & Reisner 1985, Selmanowicz 1968, Tan 1972, Nova 1979, Esterly 1987, Mulliken 1988. Other familial vascular malformations appearing in several generations were described by numerous authors (McIntosh 1957, Riley & Smith 1960, Clark 1970, Tabor & Wyatt 1970, Trell et al 1972, Ide et al 1974, Marriott et al 1975, King et al 1977, Bane et al 1978, Goldberg et al 1979, Snead et al 1979, Zonana et al 1976, Hayman et al 1982, Higginbottom & Schultz 1982, Wertelecki et a]. 1982, Pasyk et al 1984b, Mitchels et al 1985, Hurst & Baraitser 1988, Battoni et al 1990, Gangemi et al 1990, Nakagawa et al 1990, Watson et al 1990).…”

Rendu‐Osler‐Weber Syndrome

“…The autosomal dominant syndrome of multiple cutaneous and mucosal telangiectases associated with arteriovenous malformations is frequently referred to as the Kendu-Osler-Weber syndrome. In the recent excellent article by King et al (1977), concerning an association between teiangicctasia and arteriovcnous malformations of the ccntral nervous system, the authors refer to thc original descriptions by Rendu (1896), Osler (1901) and Weber & Cantab (1907). In fact, the latter article entitled "Multiple hereditary dcvelopmental angiomata (telangiectases) of the skin and mucous membranes associated with recurring haemorrhages" is by F. PARKES WEBER, N T A B , the latter indicating that his medical degree was obtained at Cambridge and was certainly not an additional author!…”

Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction

“…First described as a familial nosebleed/anaemia condition with what are now termed mucocutaneous telangiectasia [ 1 , 2 , 3 ], it was renamed Osler–Weber–Rendu syndrome following further reports [ 4 , 5 , 6 ]. With time, it was recognised that some family members were affected by gastrointestinal telangiectasia [ 7 ] and/or internal arteriovenous malformations (AVMs), particularly in the lungs [ 8 , 9 , 10 ], liver [ 11 ], and brain [ 12 , 13 , 14 ]. Following international consensus in 1997, these elements were formalised into the Curaçao Clinical Diagnostic Criteria, which remain in current use [ 15 ].…”

“…and brain [12][13][14]. Following international consensus in 1997, these elements were formalised into the Curaçao Clinical Diagnostic Criteria, which remain in current use [15].…”