Symptoma

Hoffmann Syndrome

Kocher-Debre-Semelaigne Syndrome

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]

  • 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]

  • 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]

  • 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]

  • Hypertrophy of Calf Muscles

    He had hypertrophy of calf muscles and the thyroid profile showed low levels of T3, T4 and markedly elevated level of thyroid-stimulating hormone thus confirming the presence of hypothyroidism. [ncbi.nlm.nih.gov]

  • Corneal Opacity

    Related Psychology Terms ARTHROGRYPOSIS MULTIPLEX CONGENITA POLIOMYELITIS ATHYREOSIS SILVER-RUSSELL SYNDROME BRUSHFIELD-WYATT SYNDROME LAURENCE-MOON-BIEDL SYNDROME AUTISTIC SPECTRUM DISORDER PERIPHERAL NEUROPATHY SLOW LEARNER MICROPHTHALMOS-CORNEAL OPACITY-SPASTICITY [psychologydictionary.org]

  • 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]

  • Delayed Closure of Fontanelles

    X-ray had revealed delayed bone age [Figure 3], delayed closure of fontanelle, delayed dental eruption [Figure 4], and dysplasia of heads of femur and epiphyseal dysgenesis [Figure 5]. [pediatricneurosciences.com]

  • Thick Lips

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

  • 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]

  • Clumsiness

    Muscle hypertrophy with fatigue, weakness, and slow and somewhat clumsy movements; associated with myxedema and pseudomyotonia. [whonamedit.com]

    Symptoms - Kocher-Debre-Semelaigne syndrome * Cretinism * Stiff large muscles * Discomfort in large muscles * Painful movement * Muscles slow to contract * Slow gait * Clumsy gait * Paramyotonia * Speaking difficulty * Enlarged tongue * Weak muscles * [checkorphan.org]

  • 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]

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]

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]

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

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]

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]

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]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

The response to the therapy strongly suggested that Kocher-Debré-Semelaigne (KDS) syndrome was the underlying etiology. [degruyter.com]

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]

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]

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

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]