Central cretinism in four successive siblings

Area of Science:

• Endocrinology
• Pediatrics
• Genetics

Background:

• Congenital central hypothyroidism (central cretinism) is a rare condition affecting thyroid hormone production.
• Endemic goitre regions, like the Jos Plateau in Nigeria, present unique challenges for thyroid health.
• Understanding the genetic and environmental factors contributing to central cretinism is crucial for early diagnosis and intervention.

Observation:

• Four siblings from Nigeria presented with varying degrees of intellectual, physical, and neurological impairment due to central cretinism.
• Biochemical analysis revealed low thyroid hormones (thyroxine, triiodothyronine) and thyroid-stimulating hormone (TSH), with a blunted TSH response to thyrotrophin-releasing hormone (TRH).
• Clinical manifestations ranged from predominantly myxedematous in younger children to neurological deficits in older individuals, influenced by age and treatment history.

Findings:

• Adequate treatment led to dramatic physical recovery, particularly in gait disturbances.
• Despite physical improvements, significant and largely irreversible cognitive and intellectual deficits persisted.
• The study highlights a spectrum of cretinism presentation, from myxedematous to neurological, correlating with age and treatment.

Implications:

• Early diagnosis and intervention are critical for mitigating the severe physical and neurological consequences of congenital central hypothyroidism.
• While physical impairments may be reversible with treatment, the long-term impact on cognitive function underscores the importance of lifelong thyroid hormone replacement.
• This case series contributes to understanding the varied clinical spectrum and treatment outcomes of central cretinism in an endemic region.