Presentation
Here we describe a case of GS presenting in infancy with hypokalemia and psychomotor retardation. CASE REPORT: We present an 18-month-old boy who presented with psychomotor retardation and failure to thrive. [ncbi.nlm.nih.gov]
Entire Body System
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Dysostosis
OCN is a major component of bone extracellular matrix and a marker of osteogenesis, whereas mutations in LMNA cause several genetic disorders called laminopathies, including mandibuloacral dysostosis (MAD) that manifests with low bone mass, severe bone [ncbi.nlm.nih.gov]
Gastrointestinal
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Failure to Thrive
Abstract A 28-month-old girl with dysmorphic craniofacial features, microcephaly, hypotonia, psychomotor retardation, failure to thrive and gastrointestinal problems was referred for clinical evaluation. [ncbi.nlm.nih.gov]
Bennett, PhD, Lethargy, Failure to Thrive, and Psychomotor Retardation in an Infant, Laboratory Medicine, Volume 35, Issue 11, November 2004, Pages 665–668, Close Email Twitter Facebook More Navbar Search Filter Mobile Microsite Search Term Search Article [academic.oup.com]
A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs. Camptodactyly or clinodactyly may be present. [icd10data.com]
Jaw & Teeth
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Macrostomia
Differential diagnosis with ablepharon-macrostomia syndrome is presented. Cause is unknown. [ncbi.nlm.nih.gov]
Face, Head & Neck
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Myopathic Facies
All 4 patients presented with typical clinical signs of AHDS, including severe psychomotor retardation, axial hypotonia, lack of speech, diminished muscle mass, increased muscle tone, hyperreflexia, myopathic facies, high T3, low T4 and rT3, and normal [ncbi.nlm.nih.gov]
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Prominent Nasal Root
Additional findings included narrow, high arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth. Two of the three patients also had undescended testes, hypertelorism, and tapered fingers. [ncbi.nlm.nih.gov]
Workup
Urine
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Hypocalciuria
Investigations revealed hypokalemia at 2.7 mmol/L, metabolic alkalosis, hypocalciuria and normal serum magnesium level. The diagnoses of Barter syndrome (BS) and Gitelman syndrome (GS) were considered. [ncbi.nlm.nih.gov]
Treatment
CONCLUSIONS: During IFNα treatment, the rate of transition to MDD was high in this cohort. Psychomotor retardation and somatic symptoms may represent a greater inflamed state pre-treatment. [ncbi.nlm.nih.gov]
Prognosis
With adequate treatment, GS patients have an excellent prognosis. [ncbi.nlm.nih.gov]
Diagnosis and Prognosis: When the facial features are sufficiently characteristic the diagnosis may be suspected at birth but if not the parents may note failure to develop normal motor and mental skills. [disorders.eyes.arizona.edu]
Dysthymia Major Depressive Disorder ) have a poorer prognosis. Gender: Males and females are equally affected by Major Depressive Disorder prior to puberty. After puberty, this disorder is twice as common in females as in males. [psychnet-uk.com]
Etiology
Etiology Two causative mutations have been identified in the gene encoding S-adenosylhomocysteine hydrolase (SAHH; AHCY ), an enzyme involved in methionine metabolism. Genetic counseling Transmission appears to be autosomal recessive. [orpha.net]
The authors reviewed DD/ ID focusing not only on clinical diagnosis but mostly on genetic causes and etiologic investigation. [rihuc.huc.min-saude.pt]
Cerebral malformation 3% of all childeren have at least 1 major malformation but the responsible etiologic factors can be identified in only 20% of cases 30. causes Exposure of emberyo to infectious or toxic agants during first week Alcohol Lead Prescription [slideshare.net]
Undoubtedly, the cognitive and motor aspects of everyday life for all human beings share behavioral and etiological factors that can drive new insights into (the best) treatment selection for individual patients. [jneuropsychiatry.org]
Epidemiology
Summary Epidemiology It has been described in three unrelated patients. Etiology Two causative mutations have been identified in the gene encoding S-adenosylhomocysteine hydrolase (SAHH; AHCY ), an enzyme involved in methionine metabolism. [orpha.net]
Pathophysiology
Abstract The pathophysiological basis of psychomotor retardation in depression is unclear. [ncbi.nlm.nih.gov]
Psychomotor Retardation in Depression: A Systematic Review of Diagnostic, Pathophysiologic, and Therapeutic Implications. Biomed Res Int. 2013;2013:158746. doi: 10.1155/2013/158746 Buyukdura JS, McClintock SM, Croarkin PE. [bipolar.about.com]
Prevention
[…] food after 6 months of age are important determinants for preventing megaloblastic anemia. [ncbi.nlm.nih.gov]
The best treatment is prevention. ...Read more [healthtap.com]
Useful numbers and information: Samaritans - 116 123 National Suicide Prevention – 08000 684 141 Mental health line UK - 0300 5000 101 Sane line UK - 0845 767 8000 Mind information line (Info and advice) - 0845 767 8000 Mind website - mind.org.uk Time [youtube.com]