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Persistent Tachycardia, Paroxysmal Hypertension, and Seizures: Title and subTitle BreakAssociation With Hyperglycinuria, Dominantly Inherited Microphthalmia, and Cataracts FREE

Crawford W. Adams, MD; Walter E. Nance, MD
[+] Author Affiliations

Adapted from a chairman's address read before a joint meeting of the Section on Diseases of the Chest with the Section on Preventive Medicine and the American College of Chest Physicians, at the 116th annual convention of the American Medical Association, Atlantic City, NJ, June 19, 1967.

Reprint requests to 21st and Hayes Medical Building, Nashville, Tenn 37203 (Dr. Adams).


JAMA. 1967;202(6):525-530. doi:10.1001/jama.1967.03130190131020
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A 35-year-old woman underwent diagnostic studies because of an 18-year history of paroxysmal tachycardia, hypertension, syncope, and seizures. The studies and postmortem examination failed to reveal any recognized cause for the cardiac symptoms. Associated findings included dominantly inherited microphthalmia with cataracts, and hyperglycinuria with renal stones. The findings appear to constitute an unusual genetically determined syndrome resulting from a still uncharacterized abnormality in glycine metabolism.

REFERENCES

Friedman, M.W., and Wright, E.S.:  Hereditary Microcornea and Cataract in Five Generations , Amer J Ophthal 35:1017-1021 ( (July) ) 1952;.
Wolff, E.:  A Microphthalmic Family , Proc Roy Soc Med 23 ( (pt 1) ):623-626 (Jan 10) 1930;.
Capella, J.A., et al:  Hereditary Cataracts and Microphthalmia , Amer J Ophthal 56:454-458 ( (Sept) ) 1963;.
Hoefnagel, D.; Keenan, M.E.; and Allen, F.H.:  Heredofamilial Bilateral Anophthalmia , Arch Ophthal 69:760-764 ( (June) ) 1963;.
Whitnall, S.E., and Norman, R.M.:  Microphthalmia and Visual Pathways: A Case Associated With Blindness and Imbecility, and Sex-Linked . Brit J Ophthal 24:229-244 ( (May) ) 1940;.
Sjögren, T., and Larsson, T.:  Microphthalmia and Anophthalmos With or Without Coincident Oligophrenia: A Clinical and Genetic-Statistical Study , Acta Psychiat Neurol 56 ( (suppl) ):1-103, 1949;
Lenz, W.:  Recessiv-geschlechtsgebundene mikrophthalmie mit multiplen missbildungen , Z Kinderheilk 77:384-390 ( (Dec 21) ) 1955;.
Franceschetti, A., and Gernet, H.:  Diagnostic ultrasonique d'une microphtalmie sans microcornée, avec macrophakie. haute hypermétropie associée à une dégénérescence tapéto-rétinienne, une disposition glaucomateuse et des anomalies dentaires (Nauveau syndrome familial) . Arch Ophtal (Paris) 25:105-116 ( (Jan) Feb) 1965;.
Silver. H.K.; Blair, W.C.; Kempe. C.H.:  Fanconi Syndrome: Multiple Congenital Anomalies With Hypoplastic Anemia , Amer J Dis Child 83:14-25 ( (Jan) ) 1952;.
Patau, K., et al:  Multiple Congenital Anomaly Caused by an Extra Autosome , Lancet 1:790-793 ( (April 9) ) 1960;.
Scriver, C.R., and Wilson, O.H.:  Amino Acid Transport: Evidence for Genetic Control of Two Types in Human Kidney . Science 155:1428-1430 ( (March 17) ) 1967;.
Wyngaarden, J.B., and Segal, S.: " The Hyperglycinurias ," in Stanbury. J.B.; Wyngaarden, J.B.; and Fredrickson, D.S. (eds.): The Metabolic Basis of Inherited Disease , ed 2, New York: McGraw-Hill Book Co., Inc., 1966;, pp 341-352.
Schafer, I.A.; Scriver, C.R.; and Efron, M.L.:  Familial Hyperprolinemia, Cerebral Dysfunction and Renal Anomalies Occurring in a Family With Hereditary Nephropathy and Deafness , New Eng J Med 267:51-60 ( (July 12) ) 1962;.
Efron. M.L., et al:  Hydroxyprolinemia Associated With Mental Deficiency , New Eng J Med 267:1193-1194 ( (Dec 6) ) 1962;.
Childs, B.:  Idiopathic Hyperglycinemia and Hyperglycinuria: A New Disorder of Amino Acid Metabolism , Pediatrics 27: 522-538 ( (April) ) 1961;.
Joseph, R., et al:  Maladie familiale associant des convulsions a début trés précoce, une hyperalbuminorachie et une hyperaminoacidurie , Arch Franc Pédiat 15:374-387 (No. (3) ) 1958;.
Visakorpi, J.K.; Donner, M.; and Norio, R.:  Hyperglycinuria With Severe Neurological Manifestations , Ann Paediat Fenn 11:114-117, 1965;.
de Vries, A., et al:  Glycinuria, a Hereditary Disorder Associated With Nephrolithiasis , Amer J Med 23:408-415 ( (Sept) ) 1957;.
Braunwald. E.:  Symposium on Beta-adrenergic Receptor Blockade . Amer J Cardiol 18:303-307 ( (Sept) ) 1966;.

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Friedman, M.W., and Wright, E.S.:  Hereditary Microcornea and Cataract in Five Generations , Amer J Ophthal 35:1017-1021 ( (July) ) 1952;.
Wolff, E.:  A Microphthalmic Family , Proc Roy Soc Med 23 ( (pt 1) ):623-626 (Jan 10) 1930;.
Capella, J.A., et al:  Hereditary Cataracts and Microphthalmia , Amer J Ophthal 56:454-458 ( (Sept) ) 1963;.
Hoefnagel, D.; Keenan, M.E.; and Allen, F.H.:  Heredofamilial Bilateral Anophthalmia , Arch Ophthal 69:760-764 ( (June) ) 1963;.
Whitnall, S.E., and Norman, R.M.:  Microphthalmia and Visual Pathways: A Case Associated With Blindness and Imbecility, and Sex-Linked . Brit J Ophthal 24:229-244 ( (May) ) 1940;.
Sjögren, T., and Larsson, T.:  Microphthalmia and Anophthalmos With or Without Coincident Oligophrenia: A Clinical and Genetic-Statistical Study , Acta Psychiat Neurol 56 ( (suppl) ):1-103, 1949;
Lenz, W.:  Recessiv-geschlechtsgebundene mikrophthalmie mit multiplen missbildungen , Z Kinderheilk 77:384-390 ( (Dec 21) ) 1955;.
Franceschetti, A., and Gernet, H.:  Diagnostic ultrasonique d'une microphtalmie sans microcornée, avec macrophakie. haute hypermétropie associée à une dégénérescence tapéto-rétinienne, une disposition glaucomateuse et des anomalies dentaires (Nauveau syndrome familial) . Arch Ophtal (Paris) 25:105-116 ( (Jan) Feb) 1965;.
Silver. H.K.; Blair, W.C.; Kempe. C.H.:  Fanconi Syndrome: Multiple Congenital Anomalies With Hypoplastic Anemia , Amer J Dis Child 83:14-25 ( (Jan) ) 1952;.
Patau, K., et al:  Multiple Congenital Anomaly Caused by an Extra Autosome , Lancet 1:790-793 ( (April 9) ) 1960;.
Scriver, C.R., and Wilson, O.H.:  Amino Acid Transport: Evidence for Genetic Control of Two Types in Human Kidney . Science 155:1428-1430 ( (March 17) ) 1967;.
Wyngaarden, J.B., and Segal, S.: " The Hyperglycinurias ," in Stanbury. J.B.; Wyngaarden, J.B.; and Fredrickson, D.S. (eds.): The Metabolic Basis of Inherited Disease , ed 2, New York: McGraw-Hill Book Co., Inc., 1966;, pp 341-352.
Schafer, I.A.; Scriver, C.R.; and Efron, M.L.:  Familial Hyperprolinemia, Cerebral Dysfunction and Renal Anomalies Occurring in a Family With Hereditary Nephropathy and Deafness , New Eng J Med 267:51-60 ( (July 12) ) 1962;.
Efron. M.L., et al:  Hydroxyprolinemia Associated With Mental Deficiency , New Eng J Med 267:1193-1194 ( (Dec 6) ) 1962;.
Childs, B.:  Idiopathic Hyperglycinemia and Hyperglycinuria: A New Disorder of Amino Acid Metabolism , Pediatrics 27: 522-538 ( (April) ) 1961;.
Joseph, R., et al:  Maladie familiale associant des convulsions a début trés précoce, une hyperalbuminorachie et une hyperaminoacidurie , Arch Franc Pédiat 15:374-387 (No. (3) ) 1958;.
Visakorpi, J.K.; Donner, M.; and Norio, R.:  Hyperglycinuria With Severe Neurological Manifestations , Ann Paediat Fenn 11:114-117, 1965;.
de Vries, A., et al:  Glycinuria, a Hereditary Disorder Associated With Nephrolithiasis , Amer J Med 23:408-415 ( (Sept) ) 1957;.
Braunwald. E.:  Symposium on Beta-adrenergic Receptor Blockade . Amer J Cardiol 18:303-307 ( (Sept) ) 1966;.
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