Hypothalamic Growth Hormone Deficiency and Supplementary GH Therapy in Two Patients with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes

Abstract

Two pediatric patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes were diagnosed with growth hormone deficiency with the primary lesion identified as the growth hormone-releasing factor producing cells of the hypothalamus. Stimulation tests with insulin, levodopa and sleep did not overcome the deficient pattern of growth hormone secretion. By comparison, the growth hormone-releasing factor stimulation test generated a normal growth hormone response in these two patients. Growth hormone supplementary therapy was effective in terms of growth gain without adverse effects.

Key words

MELAS - Hypothalamic GH Deficiency - GH Supplementary Therapy

References

• 1 Burns E C, Preece M A, Dameron N, Tanner J M. Growth hormone deficiency in mitochondrial cytopathy.  Acta Paediatr Scand. 1982;  71 693-697
• 2 Carroll P V, Christ and the members of Growth Hormone Research Scientific Committee E R. Growth hormone deficiency in adulthood and the effects of growth hormone replacement: a review.  J Clin Endocrinol Metab. 1998;  83 382-395
• 3 Colao A, Di Somma C, Cuocolo A, Spinelli L, Tedesco N, Pivonello R. et al . Improved cardiovascular risk factors and cardiac performance after 12 months of growth hormone (GH) replacement in young adult patients with GH deficiency.  J Clin Endocrinol Metab. 2001;  86 1874-1881
• 4 DiMauro S, Bonilla E, Zviani M, Nakagawa M, DeVivo D C. Mitochondrial myopathies.  Ann Neurol. 1985;  17 521-538
• 5 Egger J, Lake B D, Wilson J. Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy.  Arch Dis Child. 1981;  56 741-752
• 6 Kopelman P G, Noonan K. Growth hormone response to low dose intravenous injections of growth hormone releasing factor in obese and normal weight women.  Clin Endocrinol. 1986;  24 157-164
• 7 Mosewich R K, Donat J R, DiMauro S, Ciafaloni E, Shanske S, Erasmus M. et al . The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes presenting without stroke.  Arch Neurol. 1993;  50 275-278
• 8 Ohama E. Neuropathology in MELAS.  Jpn J Pediatr Med (in Jpn). 1991;  23 1084-1089
• 9 Ohama E, Ohara S, Ikuta F, Tanaka K, Nishizawa M, Miyatake T. Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalopathy.  Acta Neuropathol. 1987;  74 226-233
• 10 Pavlakis S G, Phillips P C, DiMauro S, DeDivo D C, Rowland L P. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: a distinctive clinical syndrome.  Ann Neurol. 1984;  16 481-488
• 11 Reardon W, Ross R JM, Sweeney M G, Luxon L M, Pembrey M E, Harding A E. et al . Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA.  Lancet. 1992;  340 1376-1379
• 12 Reichlin S. Neuroendocrinology. Wilson JD, Foster DW, Kronenberg HM, Larsen PR Williams Textbook of Endocrinology. 9th ed. Philadelphia; Saunders 1998: 165-248
• 13 Simpoulus A P, Delea C S, Bartler F C. Neurodegenerative disorders and hyperaldosteronism.  J Pediatr. 1971;  79 633-641
• 14 Toppett M, Tolerman-Toppett N, Szliwowski H B, Bainsel M, Coers C. Oculocraniosomatic neuromuscular disease with hypoparathyroidism.  Am J Dis Child. 1977;  131 437-441