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Letter to the Editor
12 (
1
); 219-221
doi:
10.1055/s-0040-1721545

Endometriosis as Initial Manifestation of Myotonic Dystrophy Type-2

Klinik Landstrasse, Messerli Institute, Vienna, Austria
2nd Medical Department with Cardiology and Intensive Care Medicine, Krankenanstalt Rudolfstiftung, Vienna, Austria
Address for correspondence Josef Finsterer, MD, PhD Postfach 20, 1180 Vienna Austria fifigs1@yahoo.de
Licence
This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
Disclaimer:
This article was originally published by Thieme Medical and Scientific Publishers Pvt. Ltd. and was migrated to Scientific Scholar after the change of Publisher; therefore Scientific Scholar has no control over the quality or content of this article.

Though gynecological involvement (ovarian cysts, endometriosis, hypogonadism) has been occasionally reported in myotonic dystrophy type-2 (DM2),1 2 endometriosis as initial manifestation is unknown.

The patient is a 67-year-old female referred for nonsystemic vertigo and recurrent collapses for the last 10 months together with stocking-type sensory disturbances for the last 2 years and tingling of the toes bilaterally for the last 1 week. Her history was noteworthy for: endometriosis with severe abdominal pain 1 week prior to and 1 week postmenstruation since age 18 years requiring left ovariectomy at age 24 years; endometriosis of the colon with stenosis of the sigma requiring resection of the sigma at age 30 years leading to resolution of perimenstrual abdominal pain; volvulus at age 30 years requiring surgery; recurrent surgery for hernia cicatrica at ages 31, 32, and 34 years; steatosis hepatis upon liver puncture at age 43 years; hysterectomy, right ovariectomy, and urinary bladder lifting at age 50 years; diabetes since age 53 years; right cataract-surgery at age 54 years; laser therapy at age 55 years; hyperlipidemia since age 55 years; myotonic and pseudomyotonic discharges at most investigated sites on needle electromyography from the anterior tibial muscle; inclusion body myopathy or DM2 (hypertrophic fibers, some atrophic fibers, rimmed and autophagic vacuoles, internalized nuclei) upon muscle biopsy because of hyper-CKemia and muscle weakness triggered by statins at age 56 years; cholecystectomy at age 57 years; hypoacusis since age 61 years; left cataract-surgery at age 64 years; chronic constipation since age 65 years; arterial hypertension since age 65 years; and recurrent collapses during exercise since age 67 years.

Clinical neurologic exam at age 67 years revealed short stature, hypoacusis bilaterally (hearing devices), unrounded pupils, massively sore neck muscles, diffuse muscle weakness of upper limbs (MRC4-), diffuse wasting, positive pyramidal signs on the right side, weakness for right hip flexion (MRC5-), weakness for foot extension bilaterally (MRC5-), diffuse wasting, a subclonic left patella tendon reflex, reduced Achilles tendon reflexes, and hypoesthesia of all toes. There was a pes equino-excavatus. The Gower sign was positive. Creatine-kinase was normal. Cerebral magnetic resonance imaging revealed contact between the cerebelli anterior inferior artery and the vestibulo-cochlear nerves and nonspecific gliotic spots bilaterally. Cerebral computed tomography showed hyperostosis frontalis. Echocardiography revealed concentric thickening of the left-ventricular myocardium. Electrocardiogram was normal. On the Mini-Mental State Exam, she scored 27/30 points. Nerve conduction studies revealed axonal neuropathy of lower limbs: Ultrasonography revealed carpal tunnel syndrome bilaterally. Genetic work-up revealed a CCTG-repeat expansion of >300bp (>75 repeats) in ZNF9.

The presented patient is interesting for DM2 and endometriosis as initial manifestation of DM2. The diagnosis DM2 relied on the clinical presentation, electromyography, and genetics. The diagnosis was challenged by previously undescribed phenotypic features, such as occasionally mildly elevated serum lactate, short stature, and hyperostosis frontalis (Table 1). Arguments for a causal relation between DM2 and endometriosis are that gynecological involvement has been previously reported in DM2 (Table 1),3 that endocrine involvement is frequent in DM2, that endometriosis has been reported in DM1/DM2 (Table 1),4 5 and that no other first-degree relatives had endometriosis.

Table 1:
Clinical manifestations of DM1 and DM2 in the presented case and the literature

Manifestation

Index case

DM1

DM2

Abbreviations: DM1, myotonic dystrophy type-1; DM2, myotonic dystrophy type-2; GGT, gamma-glutamyl transferase; IgG, immunoglobulin G; IgM, immunoglobulin M.

Muscle

Myopathic face

No

Yes

Yes

Limb muscle weakness

Yes

Yes

Yes

Clinical myotonia

No

Yes

Yes

Myalgias

No

No

Yes

Muscle wasting

Yes

Yes

Yes

Calf hypertrophy

No

No

Yes

Hyper-CKemia

Yes

Yes

Yes

Peripheral nerves

Polyneuropathy

Yes

Yes

Yes

Autonomic dysfunction

No

Yes

No

Carpal tunnel syndrome

No

Yes

No

Brain

Cognitive impairment

Yes

Yes

Yes

Behavioral abnormalities

No

Yes

No

Mental retardation

No

Yes

No

Daytime sleepiness

No

Yes

Yes

White matter lesions

Yes

Yes

Yes

Eyes

Cataract

Yes

Yes

Yes

Low intraocular pressure

No

Yes

No

Pigmentary retinopathy

No

Yes

Yes

Epiretinal membranes

No

Yes

Yes

Endocrine

Diabetes

Yes

Yes

Yes

Hyperthyroidism

No

No

Yes

Hypothyroidism

No

Yes

Hyperhidrosis

No

No

Yes

Hypogonadism

No

Yes

Yes

Hyperparathyroidism

No

Yes

No

Abortus, stillbirth

No

Yes

No

Endometriosis

Yes

Yes

Yes

Osteoporosis

No

Yes

No

Short stature

Yes

No

No

Cardiac

Conduction defects

Yes

Yes

Yes

Arterial hypertension

Yes

Yes

Yes

Myocardial thickening

Yes

Yes

Yes

Dilative cardiomyopathy

No

Yes

Yes

Noncompaction

No

Yes

Yes

Gastrointestinal

Dysphagia

No

Yes

Yes

Dysmotility

Yes

Yes

Yes

Steatosis hepatis

Yes

Yes

Yes

Liver cirrhosis

No

No

Yes

Elevated GGT

Yes

Yes

Yes

Cholecystolithiasis

Yes

Yes

Yes

Nonalcoholic fatty liver disease

Yes

Yes

Yes

Bones

Hyperostosis frontalis

Yes

Yes

No

Foot deformities

Yes

Yes

Yes

Small sella

No

Yes

No

Large air sinuses

No

Yes

No

Skin

Frontal balding

No

Yes

Yes

Pilomatricoma

No

Yes

No

Others

Hydroureter

No

No

Yes

Hyperlipidemia

Yes

Yes

Yes

Hyperuricemia

Yes

No

Yes

Thrombocytosis

No

No

Yes

Renal cysts

No

No

Yes

Low IgG, IgM

No

Yes

Yes

Lactic acidosis

Yes

No

No

Overall, the phenotypic spectrum of DM2 is broader than anticipated and resembles DM1 in many aspects.

Ethical Approval

Informed consent was obtained from the reported patient.

Authors’ Contributions

Both authors contributed equally (J. F.: clinical investigations, design, literature search, discussion, first draft; C. S.: clinical investigations, literature search, discussion, critical comments).

Conflict of Interest

None declared.

FundingNone.

References

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