Ocular and nervous system involvement in angioma serpiginosum.

Abstract

Cutaneous angiomata of the "port wine" variety are frequently associated with angiomata elsewhere in the body and particularly in the central nervous system. Retinal and nervous system involvement by angioma serpiginosum has, however, not previously been recorded. For this reason and also because of the unusual retinal abnormality in this patient, it is felt justifiable to report this single case, which may represent a new syndrome. Case reportA woman, born on March I3, 1929, was first admitted to the National Hospital, in July, I950, under the care of the late Dr. J. St C. Elkington. Her parents, four sisters, and three brothers were all alive and well and there was no family history of neurological illness or of cutaneous naevi. History At birth her skin was normal, but at the age of I year some angiomatous lesions were noted on the right leg. At 5 years these were more extensive and at the age of 7 years they were treated by cautery.At age I7 the patient underwent an appendicectomy and the right pupil was reported to be larger than the left. At the age of 21 years (I 950) she suddenly became aware of difficulty in elevating her right arm and over the next few months noticed clumsiness in the execution of fine movements with the right hand.In the following years, the right arm became progressively weaker with impaired sensation in the hand and in I962 she experienced attacks of burning pain in the upper arm lasting several hours. She also noted a sensation of fullness in the right orbit on bending down. The cutaneous angioma now involved the trunk, and new lesions appeared in the right axilla and on the adjacent medial aspect of the right arm.In I965 she first developed burning pain in the right side of the face, which persisted as did the attacks of pain in the right arm. The weakness of the right arm progressed and elevation became impossible without assistance. At about this time, she also began to experience attacks in which she would feel faint and occasionally fall to the ground. These episodes became more frequent, and occurred as often as four or five times a day, and though some were spontaneous others were precipitated by getting up suddenly or turning the head to the right.In I969, she developed nocturnal paraesthesiae in the left hand; the carpal-tunnel syndrome was diagnosed and the symptoms were relieved by surgical decompression. No change was noted in October, 1970, and she was still able to work as a hospital telephonist.The only ocular symptom reported has been of mild deterioration of vision in the right eye.

Angioma Serpiginosum with Extensive Lesions Associated with Retinal Vein Occlusion

“…Usually, there have been no associated systemic abnormalities of angioma serpiginosum except for 2 previously reported cases: Gautier-Smith et al [8] reported a patient with capillary abnormalities of the retina and spinal nerve roots in association with angioma serpiginosum with an extensive lesion. Recently, Erbagci et al [9] have also reported tortuous and slightly ectatic retinal vessels associated with angioma serpiginosum.…”

Angioma Serpiginosum Arranged in a Systematized Segmental Pattern Suggesting Mosaicism

“…A familial occurrence of AS has also been observed and, remarkably, all of the affected family members showed a rather symmetric and nonsegmental involvement [10]. By way of exception, an extracutaneous involvement in the form of ocular and central nervous system lesions has been reported [11, 12]. …”

Cavernous Hemangioma with Cone Dysfunction

“…In a case with ocular and nervous system involvement reported by Gautier-Smith et al [9], there was a normal color discrimination, but the sensation of brightness was impaired perhaps due to the reduced visual acuity.…”