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]
Patient 1 presented with infantile hypotonia, epilepsy and hyperactivity without growth retardation, whereas patient 2 presented with persistent hypotonia, growth retardation and self-injury without epilepsy.[ncbi.nlm.nih.gov]
A computer-assisted literature search has not revealed similar cases to those presented here. The cases described here appear to have a previously undescribed combination of ophthalmological and cerebral abnormalities.[ncbi.nlm.nih.gov]
BACKGROUND: Several genes have been implicated in a highly variable presentation of developmental delay with psychomotor retardation. Mutations in EMC1 gene have recently been reported.[ncbi.nlm.nih.gov]
Differential diagnosis with ablepharon-macrostomia syndrome is presented. Cause is unknown.[ncbi.nlm.nih.gov]
We evaluated haploinsufficiency of kdm6a in a zebrafish model. kdm6a is expressed in the pharyngeal arches and ethmoid plate of the developing zebrafish, while a kdm6a morpholino knockdown exhibited craniofacial defects.[ncbi.nlm.nih.gov]
Abstract We describe a boy with bilateral lid agenesis and total keratinization of cornea and conjunctiva, macrostomia, psychomotor retardation, forehead hypertrichosis, ocular hypertelorism, thinlips, abnormal auricles and nose, skin alterations, and[ncbi.nlm.nih.gov]
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]
Reduction in symptoms was significant with LO and OX treatment on either day of treatment. The second time, however, LO was significantly better compared with OX in alleviating the target symptoms.[ncbi.nlm.nih.gov]
Regardless of clinical outcome HF-rTMS treatment resulted in significant decreases on the Depressive Retardation Rating Scale (DRRS) scores.[ncbi.nlm.nih.gov]
Before treatment, the results showed VF deficits, particularly marked in the bipolar group.[ncbi.nlm.nih.gov]
The main aim of allogeneic fetal stem cell transplantation was treatment of psychomotor retardation and epilepsy.[ncbi.nlm.nih.gov]
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]
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]
Practically all categories in the chapter could be designated 'not otherwise specified', 'unknown etiology' or 'transient'.[icd10data.com]
Maternal uniparental disomy for chromosome 7 is known to play a role in its etiology.[icd10data.com]
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]
Abstract The pathophysiological basis of psychomotor retardation in depression is unclear.[ncbi.nlm.nih.gov]
These findings suggested that depression may cause frontal dysfunction and frontal hypoperfusion, and that these pathophysiological changes are manifested as psychomotor retardation.[ncbi.nlm.nih.gov]
Future investigations of psychomotor retardation should help improve the understanding of the pathophysiological mechanisms underlying mood disorders and contribute to improving their therapeutic management.[ncbi.nlm.nih.gov]
Psychomotor retardation (PMR) is one of the core symptoms of major depressive disorder (MDD) and has a specific pathophysiology, but studies of PMR remains sparse. The purpose of this study was to explore the cerebral blood flow (CBF) of PMR in MDD.[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.[verywellmind.com]
[…] food after 6 months of age are important determinants for preventing megaloblastic anemia.[ncbi.nlm.nih.gov]
CONCLUSION: These findings support the hypothesis that the severe psychomotor retardation and elevated serum T(3) levels in these patients are caused by inactivation of the MCT8 transporter, preventing action and metabolism of T(3) in central neurons.[ncbi.nlm.nih.gov]
The best treatment is prevention. ...Read more[healthtap.com]