A short review of the literature is also presented. [ncbi.nlm.nih.gov]

Rarely, it can present with unusual syndromes like VWGS and KDSS. [karger.com]

[…] this girl with decreased activity presented for lack of growth....on examination calf muscle hypertrophy was present 51 thanks, 18 comments 16 Sep 2016 Thank Share Post Verified response Kocher-Debre-Semelaigne syndrome 21 5 Reply @Archana Verma: Features [dailyrounds.org]

Conclusion The classic presentation of hypothyroidism is easily recognised. [ojhas.org]

• Poor Growth

  We present a 5-year-old boy with poor growth and delayed dental and motor development. There was no family history. On examination he had coarse facies, large protruding tongue, athletic build, short stature and mental retardation. [ncbi.nlm.nih.gov]

  Rarely, muscle enlargement is also seen, and the term Kocher Debre Semelaigne syndrome (KDS syndrome) is used. 1– 3 We report the case of an 11 year old boy presenting with poor growth, mental retardation, diffuse exertional pain in both lower limbs, [adc.bmj.com]

  growth, difficulty in squatting, and pain in legs on prolonged walking. [pediatricneurosciences.com]

• Recurrent Respiratory Infections

  There was no history of fever, any local pain and tenderness, difficulty inswallowing, recurrent respiratory infection, hard of hearing, breathlessness and pain in chewing movements. [ojhas.org]

• Regurgitation

  Cardiovascular system examination revealed mildly elevated jugular venous pulse, muffled heart sounds, and a grade III/VI pansystolic tricuspid regurgitation murmur. [ijem.in]

• Anterior Open Bite

  Here we report onesuch case of Kocher debre semelaigne syndrome in an 11 year oldboy, showing features of macroglossia, multiple impacted teeth,puffed lips and anterior open bite. Issues [platform.almanhal.com]

  Here we report one such case of Kocher debre semelaigne syndrome in an 11 year old boy, showing features of macroglossia, multiple impacted teeth, puffed lips and anterior open bite. [ncbi.nlm.nih.gov]

• Exfoliation of Primary Teeth Delayed

  The effect on the dentition was, to a great extent, limited to failure to exfoliate the primary teeth, delayed eruption of permanent teeth and distortion of the roots of the lateral incisors and first permanent molars. [ncbi.nlm.nih.gov]

• Malocclusion

  Based on these features, a clinical diagnosis of skeletal and dental malocclusion (class II) secondary to hypothyroidism was made. Photograph of the patients limbs showing prominent calf muscles. [ncbi.nlm.nih.gov]

• High Arched Palate

  Intra oral examination revealed that the patient had high arched palate and a protruding tongue ( Fig. 4 ). Hard tissue examination revealed mixed dentition with permanent incisors, deciduous canines and molars in each quadrant. [ncbi.nlm.nih.gov]

• Delayed Dentition

  Coarse facies with macroglossia, delayed dentition, hoarse voice, and hypertrophied appearance of muscles of the neck, tongue, face, and also calf, back, quadriceps and deltoid region are seen. [peertechz.com]

• Proximal Muscle Weakness

  Hoffmann's syndrome is a rare specific form of hypothyroid myopathy, which causes proximal muscle weakness and hypertrophy of muscles. [ijnpnd.com]

  On central nervous system examination, the child had normal sensorium, the tone was normal with proximal muscle weakness (muscle power being 4/5, distal muscle power being normal), deep tendon reßexes were diminished, sensory system was normal, the plantar [mafiadoc.com]

  She also gave history suggestive of proximal muscle weakness, hair loss, constipation, and cold intolerance. Her antenatal, natal, and postnatal history were unremarkable as were her past and treatment history. [thetrp.net]

  On central nervous system examination, the child had normal sensorium, the tone was normal with prominent calf muscles (Figure 2) with proximal muscle weakness in the lower limbs (muscle power being 4/5, distal muscle power being normal). [ojhas.org]

  A 14-year-old male child was referred to our cardiology outpatient department with history of easy fatiguability, generalized edema, proximal muscle weakness, and occasional paroxysmal palpitations for 2 years. [ijem.in]

• Hypertrophy of Calf Muscles

  We report a case of hypothyroidism with calf muscle hypertrophy and proximal myopathy as the initial symptoms. Keywords: Hashimoto′s thyroiditis; Hoffmann′s syndrome; pseudo hypertrophy of muscles; thyroid peroxidase antibodies. [ijnpnd.com]

  Short stature, calf muscle hypertrophy. His developmental assessment showed normal gross motor milestones. [ncbi.nlm.nih.gov]

• Normal Stature

  On examination he was found to be normal statured (height SDS=−1.67; height velocity SDS=−5.5) with prominent muscular build. He showed muscle hypertrophy with enlargement of the calf muscles. [abstracts.eurospe.org]

• Depressed Nasal Bridge

  The presence of coarse facial features, depressed nasal bridge, facial and periorbital puffiness, dry skin, and acanthosis nigricans was noted [Figure 1]. [thetrp.net]

  She had pallor, hypertelorism, depressed nasal bridge, thick lips, hypertrophied tongue, and dry rough skin, short neck and umbilical hernia. [ojhas.org]

  Extra oral examination revealed that the patient had facial symmetry with the short stature (103) and upper/lower segment ratio of 1.5, rough hair texture, broad forehead with thick skin, coarse facial features, depressed nasal bridge, hypertelorism, [ncbi.nlm.nih.gov]

  On anthropometry, the patient's height was 91.5 cm ( Fig. 1 The patient's features. a Coarse facial features, puffiness of face, dry brittle hair, dry skin, and depressed nasal bridge. b Short and chubby fingers, and pale and dry skin. c Pseudohypertrophy [karger.com]

• Short Neck

  She had pallor, hypertelorism, depressed nasal bridge, thick lips, hypertrophied tongue, and dry rough skin, short neck and umbilical hernia. [ojhas.org]

  Beside this, he had features of short neck, umbilical hernia, coarse skin, incoherent speech and prominent calf muscles with proximal muscle weakness in the lower limbs ( Fig. 2 ). [ncbi.nlm.nih.gov]

• Coarse Face

  Coarse facial features Coarse facial appearance, Coarse facies, Rounded and heavy facial features, Coarse face, Thickened facial skin with coarse facial features, Coarse facial features [more] Absence of fine and sharp appearance of brows, nose, lips, [rarediseases.oscar.ncsu.edu]

  Skin Laxity, with or without Metabolic Abnormalities Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism Mental Retardation, Microcephaly, Epilepsy, and Coarse [rgd.mcw.edu]

• Vaginal Bleeding

  Wormsbecker A, Clarson C: Acquired primary hypothyroidism: vaginal bleeding in a quiet child. CMAJ 2010;182:588-590. [karger.com]

• Gowers Sign

  His Gower sign was negative and his CPK was normal. [ncbi.nlm.nih.gov]

  Systemic examination revealed bilateral bulky calf muscles, delayed contraction and relaxation of ankle jerk, and pseudomyotonia of calf muscles with negative Gower's sign [Figure 2]. Her gait was normal. [thetrp.net]

• Cerebellar Sign

  Figure 1: Short stature ( Click here to view Sensory examination was normal, and there were no abnormal movements or cerebellar signs. Initial hematological and biochemical workup were normal except for microcytic hypochromic anemia of 9.2 g/100 mL. [pediatricneurosciences.com]

• Akinesia

  Our case had all the typical echocardiographic features, namely localized RV aneurysms with regional akinesia and dyskinesia, multiple RV apical aneurysms and RV systolic dysfunction, along with epsilon waves in the 12- lead ECG. [ijem.in]

Initial hematological and biochemical workup were normal except for microcytic hypochromic anemia of 9.2 g/100 mL. Serum creatinine phosphokinase was 912 U/mL (normal 35-145 U/mL). [pediatricneurosciences.com]

• Prominent A-Wave

  A 12 lead ECG revealed low-voltage complexes with prominent epsilon waves in the right-sided chest leads [Figure 2] a.Chest radiograph showed cardiomegaly with a cardiothoracic ratio of 0.65 [Figure 2] b. [ijem.in]

Treatment This child was started on 50 µg of levothyroxine daily. Outcome and follow-up The child came for the first follow-up 2 weeks after the start of treatment and his calf hypertrophy had reduced and he was more active and interactive. [ncbi.nlm.nih.gov]

treatment as KDS myopathy is reversible and responds favorably to adequate treatment for hypothyroidism. [8] References 1. [thetrp.net]

Based on these results, severe hypothyroidism secondary to autoimmune thyroiditis was diagnosed, and treatment was started with levothyxorine 75 μg/day. [elsevier.es]

The muscular pseudohypertrophy and clinical features of hypothyroidism revert with treatment of the hypothyroidism, though final height may still be reduced. [adc.bmj.com]

During myxedema coma, effective treatment supports vital functions while restoring euthyroidism. [checkorphan.org]

Achieving pharmacological and clinical euthyroidism is desirable from an anesthetic point of view and seems to improve the long-term prognosis. Hoffman Syndrome: Same clinical presentation with the addition of painful spasms and pseudomyotonia. [accessanesthesiology.mhmedical.com]

Prognosis - Kocher-Debre-Semelaigne syndrome Not supplied. [checkorphan.org]

Prognosis: If treated early, prognosis for a normal life is good. Ancillary treatments and support: Early initiation of therapy requires little further treatment beyond lifelong thyroid hormone supplementation. [wohproject.org]

Pharmacotherapy is disease specific; refer to the discussion of individual disorders that follows.32.10 PrognosisThe prognosis depends on the etilogi and specific diagnosis. [vdocuments.net]

Etiology The etiology of the muscle pseudohypertrophy is not known but it is thought to be a result of long standing hypothyroidism. [orpha.net]

Primary autoimmune etiology was confirmed by raised anti-TPO antibody titre >1000 mU/ml and ultrasound features of autoimmune thyroiditis. [abstracts.eurospe.org]

The original reference is provided for historical interest, and review articles are included to show recent advances in etiology and treatment. [books.google.de]

Summary Epidemiology Prevalence is unknown. Clinical description The syndrome usually presents between 18 months and 10 years but has been reported at earlier ages including during the neonatal period. [orpha.net]

The report suggested that the rise counterbalances reductions in lipid metabolism and insulin sensitivity and compensates for oxidative muscle and thyroid cell stress. [17] Epidemiology Frequency United States In North America, acquired impairment of [emedicine.medscape.com]

The epidemiology of thyroid diseases. In: Bravermann LE, Utiger RD, editors. Werner and Ingbar’s the thyroid: a fundamental and clinical text. Philadelphia: Lippincott-Raven Publishers; 2000. p. 467–73. 2. [springermedizin.de]

Emphasis has been placed on the diagnosis and management of these disorders rather than on their pathophysiology. [books.google.de]

The pathophysiology is probably related to the complex interaction between the hypothalamic-pituitary thyroid and gonadal axes [ 3, 6 ]. [karger.com]

The pathophysiology of muscle pseudohypertrophy is not known. [elsevier.es]

It comprises of biosynthesis, various biochemical functions, mechanism of action and pathophysiology associated with each of the sex hormone. In addition to this it also provide... [jaypeedigital.com]

— Triiodothyronine: review of recent studies of its physiology and pathophysiology in man. Metab. Clin. Experim. 21:1073, 1972. [ Links ] 21. NAJJAR, S. S. & NACHMAN, H. S. — The Kocher-Debré-Semelaigne syndrome. J. [scielo.br]

Prevention - Kocher-Debre-Semelaigne syndrome Not supplied. Diagnosis - Kocher-Debre-Semelaigne syndrome Not supplied. Prognosis - Kocher-Debre-Semelaigne syndrome Not supplied. [checkorphan.org]

Generally, patients who develop blood clots are placed on blood thinning medications called anticoagulants to prevent new clots from forming and existing clots from worsening. [idmedicale.com]

Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice. [books.google.de]

And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

"Force majeure" term will be regarded as outside of the concerned party's reasonable control and any situation that "Turkiye Klinikleri" cannot prevent even though it shows due diligence. [turkiyeklinikleri.com]