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[Hypothyroidism : diagnostic error and sequenlae. Report of a case]
Insights
This case report highlights severe hypothyroidism in an 8-year-old boy, presenting with infant-like size and developmental delays. Skeletal and brain development were significantly impacted, showcasing the effects of untreated metabolic issues.
Area of Science:
- Pediatric Endocrinology
- Skeletal Radiology
- Pediatric Neurology
Background:
- Congenital hypothyroidism can lead to severe developmental impairments if untreated.
- Early diagnosis and treatment are crucial for preventing long-term sequelae.
- Skeletal and neurological manifestations provide diagnostic clues.
Purpose of the Study:
- To report a case of severe, untreated hypothyroidism in a pediatric patient.
- To illustrate the characteristic skeletal and neurological findings.
- To emphasize the importance of timely diagnosis and intervention.
Main Methods:
- Clinical case presentation of an 8-year-old male.
- Radiographic skeletal survey including skull base and lumbar spine.
- Electroencephalogram (EEG) for neurological assessment.
Main Results:
- Patient presented with physical characteristics of a baby (size and weight).
- Skeletal survey revealed delayed maturation, skull base sclerosis, and Swoboda sign (lumbar body deformity).
- EEG showed slow, low-voltage patterns indicative of brain development retardation.
Conclusions:
- Untreated hypothyroidism causes profound skeletal and neurological developmental delays.
- Radiographic signs like Swoboda sign are indicative of severe skeletal hypothyroid changes.
- EEG findings correlate with the degree of brain development impairment in hypothyroidism.
Abstract:
Case report of an 8 year old, untreated, hypothyroid boy from the size and weight of a baby. The delayed maturation of the skeleton caused by the severly retarded metabolism is demonstrated. Typical X-ray signs of the untreated hypothyroid skeleton, sclerosis of the base of the skull and the significant deformity of the anterior portion of the second lumbar body (Swoboda sign) are discussed. The severe retardation of brain development can be demonstrated by the slow and low voltage EEG.