CASE REPORT A 10-year-old female child (resident of the state of Uttar Pradesh, India) presented with swelling all over the body and breathlessness Note: This manuscript was presented as a Scientific Poster at the PEDICON 2007 (National Conference of [mafiadoc.com]

Presenting as myopathy and muscular hypertrophy of calf muscles a very rare presentation.[1] Hoffmann�s syndrome is a specific form of hypothyroid myopathy, which causes proximal muscle weakness and pseudo hypertrophy of calf muscles due to connective [worldwidejournals.com]

Such presentation can raise diagnostic dilemmas for us as clinicians. Hence, this case report emphasizes on simple screening of patients for hypothyroidism who present with symptoms of myopathy. [go.gale.com]

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

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

• Short Stature

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

  The Kocher-Debré-Semelaigne syndrome is a (myopathy) of hypothyroidism in infancy or childhood characterised by lower extremity or generalized muscular hypertrophy, myxoedema, short stature and cretinism. [wikidoc.org]

  The Kocher–Debré–Semelaigne syndrome is hypothyroidism in infancy or childhood characterised by lower extremity or generalized muscular hypertrophy, myxoedema, short stature and cretinism. [ipfs.io]

• Sepsis

  Rule-out sepsis evaluation was performed on admission in 10 neonates. The mothers of 5 of these neonates had been diagnosed with chorioamnionitis and/or group B Streptococcus infection. [jamanetwork.com]

• Respiratory Distress

  Congenital peripheral neuropathy presenting as apnea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1). Dev Med Child Neurol 2004;46:576. 16. Arima H, Sobue K, Tanaka S, Morishima T, Ando H, Katsuya H. [medigraphic.com]

  Managing acute respiratory distress syndrom... Bajwa Abubakr A, Cury James D International Journal of Critical Illness and Injury Science, Year 2011, Volume 1, Issue 2 [journalofmas.com]

  distress syndrome Aicardi-Goutieres Syndrome + Aksu von Stockhausen Syndrome Al Gazali Aziz Salem Syndrome Al Gazali Hirschsprung Syndrome Al Gazali Khidr Prem Chandran Syndrome Al Gazali Sabrinathan Nair Syndrome Alacrima, Achalasia, and Mental Retardation [rgd.mcw.edu]

  Spinal muscular atrophy with respiratory distress type 1: a multicenter retrospective study. Neuromuscul Disord. 2018 Oct 31. [QxMD MEDLINE Link]. Wijngaarde CA, Blank AC, Stam M, Wadman RI, van den Berg LH, van der Pol WL. [emedicine.medscape.com]

  A total of 12 neonates in the NICU (63.2%) required respiratory support at variable times for transient tachypnea of the newborn (n = 2), culture-negative sepsis (n = 1), congenital malformations (n = 6), and respiratory distress syndrome (n = 3). [jamanetwork.com]

• Pneumonia

  Aspiration pneumonia is an important cause of morbidity and mortality. [patient.info]

  Case report: The patient was a 5½ year-old male admitted to the emergency room from another hospital with a diagnosis of pneumonia with right apical atelectasis and with poor clinical evolution. [medigraphic.com]

  Taori, KR Lahiri, MS Tullu The Indian Journal of Pediatrics 77 (3), 267-271, 2010 60 2010 Colistin: Re-emergence of the'forgotten'antimicrobial agent AK Dhariwal, MS Tullu Journal of postgraduate medicine 59 (3), 208, 2013 51 2013 Bacterial nosocomial pneumonia [scholar.google.co.in]

  Most patients die before the age of two secondary to pneumonia. [icd10data.com]

  […] congenita hy per opia Endolymphatic sac tumors Pilodental dysplasia with refractive Borrone Di Rocco Crovato syndrome (ELST's) in Von Hippel Lindau Optic atrophy Kjer type PMC errors 225 BOS syndrome (VHL) disease Endometrial stromal sarcoma Klebsiella pneumoniae [yumpu.com]

• Respiratory Insufficiency

  […] and respiratory assistance manage weakness Prognosis, Prevention, and Complications 95% death by 18 months of age and 100% by four years of age Development of kyphosis and scoliosis Weakened pulmonary musclesd decreased respiratory support from musculature [step1.medbullets.com]

  Congenital peripheral neuropathy presenting as apnea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1). Dev Med Child Neurol 2004;46:576. 16. Arima H, Sobue K, Tanaka S, Morishima T, Ando H, Katsuya H. [medigraphic.com]

• Dyspnea

  A forty-three-year-old male presented with 6 years history of lower limb weakness and dyspnea for the past 1 month. [jpgmonline.com]

• Constipation

  Further history uncovered reduced activity, poor appetite, daytime sleepiness and constipation for around 2 years duration. Examination revealed typical facial and body habitus of a child with longstanding severe hypothyroidism. [adc.bmj.com]

  This syndrome can present between infancy and 10 years of age with symptoms typical of hypothyroidism including: decreased activity, increased sleep, difficulty eating, constipation, yellow colored skin (jaundice), unusually large tongue (macroglossia [diseaseinfosearch.org]

  Hassan Sabia Sikander Medicine German medical science : GMS e-journal 2005 The disorder is described in a 21 year old male, who got admitted with complaints of generalized weakness, cold intolerance, constipation, and hoarse voice, difficulty in walking [semanticscholar.org]

  She had poor appetite, constipation, passing hard stools, less physical activity, and cold intolerance. Her milestones were normal with very good scholastic performance. [ojhas.org]

  Patients present with clinical features of hypothyroidism, including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia, a distended [orpha.net]

• Dyschezia

  Constipation Costiveness, Constipation, Dyschezia [more] Infrequent or difficult evacuation of feces. [rarediseases.oscar.ncsu.edu]

• Myopathy

  […] muscular hypertrophy in children, myopathy-myxedema syndrome, myxedema-muscular hypertrophy syndrome, etc.) is a rare disorder causing Department of Pediatrics, Seth G.S. [mafiadoc.com]

  Conclusions: HS is a rare but treatable form of acquired myopathies and can be seen in children due to untreated hypothyroidism. All patients with an acquired myopathy and muscular pseudohypertrophy should be screened regarding thyroid hormones. [degruyter.com]

  CPK and LDH levels are elevated in thyroid myopathy due to muscle degeneration. [thetrp.net]

  Thyroid myopathy is reversible with treatment. [worldwidejournals.com]

• Proximal Muscle Weakness

  […] syndrome is a rare and specific form of hypothyroid myopathy characterized by proximal muscle weakness and pseudohypertrophy of muscles. [go.gale.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]

  Presenting as myopathy and muscular hypertrophy of calf muscles a very rare presentation.[1] Hoffmann�s syndrome is a specific form of hypothyroid myopathy, which causes proximal muscle weakness and pseudo hypertrophy of calf muscles due to connective [worldwidejournals.com]

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

• Muscular Atrophy

  Baby MB familial spinal muscular atrophy juvenile spinal muscular atrophy Kugelberg-Welander syndrome progressive spinal muscular atrophy progressive spinal muscular atrophy of infants SMA2 SMA4 SMN1 SMN2 spinal muscular atrophy spinal muscular atrophy [medical-dictionary.thefreedictionary.com]

  Spinal muscular atrophy. Methods Mol Med 2004;92:343-358. 2. Iannaccone ST, Smith SA, Simard LR. Spinal muscular atrophy. Curr Neurol Neurosci Rep 2004;4:74-80. 3. Pearn J. Classification of spinal muscular atrophies. Lancet 1980;26:919-922. 4. [medigraphic.com]

  Related Medscape Drugs & Diseases topics: Focal Muscular Atrophies Spinal Muscle Atrophy Spinal Muscular Atrophy Related Medscape resource: Resource Center Spinal Disorders Signs and symptoms of spinal muscular atrophy Signs and symptoms of SMA include [emedicine.medscape.com]

  Spinal muscular atrophy. Orphanet J Rare Dis. 2011;6:71. 10. Kolb SJ, Kissel JT. Spinal muscular atrophy. Arch Neurol. 2011;68(8):979-984. 11. Centers for Disease Control and Prevention. Developmental milestones. [unidosporlaame.es]

  […] hereditary ataxias G11.9 Hereditary ataxia, unspecified G12 Spinal muscular atrophy and related syndromes G12.0 Infantile spinal muscular atrophy, type I [Werdnig-Hoffman] G12.1 Other inherited spinal muscular atrophy G12.2 Motor neuron disease G12.21 [icd10data.com]

• Fracture

  Mayo Clinical orthopaedics and related research 1994 Management of displaced fractures of the acetabulum represents one of the greatest challenges in fracture surgery. This study… (More) Joel M. Matta, Philip O. [semanticscholar.org]

  […] of the acetabulum Thakkar C J Indian Journal of Orthopaedics, Year 2002, Volume 36, Issue 1 28 Modified Kocher-Langenbeck approach in combined surgical exposures for acetabular fractures manag... [jpgmonline.com]

  1 Radial head fractures treated by open reduction and internal fixation with an extensor digitorum ... The Egyptian Orthopaedic Journal, Year 2015, Volume 50, Issue 2 2 Theodor E. [journalofmas.com]

  High frequency of pathological fractures and hypercalcaemia. Pneumonia. Respiratory failure. [patient.info]

  […] ambiguus, Posterior cerebral artery syndrome, Rickettsiosis, Cutis laxa, Pagophagia, Harry Raymond Eastlack, Lecithin cholesterol acyltransferase deficiency, Barakat syndrome, Melorheostosis, Sialidosis, Lofgren syndrome, Ruptured spleen, Monteggia fracture [loot.co.za]

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]

[…] noted, but muscle wasting of the affected musculature is more prominent Patients may have a positive Gowers sign and a waddling gait Approximately one third of patients have facial and masseter muscle weakness Sensory examination findings are normal Workup [emedicine.medscape.com]

One neonate with transposition of the great arteries developed fever while receiving prostaglandin and underwent full sepsis workup. Results of multiple repeated tests for SARS-CoV2 were negative on DOL-2 through DOL-8. [jamanetwork.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]

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

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

By the time his hypothyroid status was confirmed, conservative treatment and orally administered levothyroxine gradually made the pain from his calves disappear, without further surgical treatment. [munin.uit.no]

It is an infrequent cause of myopathy, with good prognosis. [endocrine-abstracts.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: 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]

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

The etiology of pseudo hypertrophy in Hoffman’s syndrome remains obscure and myopathy may be only clinical findings in these patients to indicate hypothyroidism. [scialert.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]

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

Introduction Primary hypothyroidism constitutes for thyroid insufficiency in 95% of the cases, and Hashimoto's thyroiditis is the main etiology for primary hypothyroidism. [go.gale.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]

Epidemiology[1] The estimated incidence of SMA is 1 in 6,000 to 1 in 10,000 live births and the carrier frequency of 1/40-1/60. [patient.info]

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]

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

Pathophysiology[edit] The assumed cause of muscle hypertrophy in KDSS is an abnormal metabolism of carbohydrates leading to increased glycogen accumulation and increased mucopolysaccharide deposits in the muscles.[7] Yet another speculation is an excess [en.wikipedia.org]

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]

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

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]

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]

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]

[…] confirms the diagnosis Electromyography (EMG) fibrillations and sharp waves Muscle biopsy Differential Congenital myasthenia syndromes Congenital myopathy Treatment Supportive ensure nutritional support and respiratory assistance manage weakness Prognosis, Prevention [step1.medbullets.com]