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
M. D. Mihoko Matsuzaki
Department of Pediatrics Tokyo Women's Medical University School of Medicine
8 - 1 Kawada-cho
Shinjuku-ku, Tokyo 162 - 8666
Japan
Email: ikyoku@ped.twmu.ac.jp