Harlequin ichthyosis is a rare autosomal recessive disorder occurring in 1: 3,000,000 birth characterized by thick keratin skin with a scaly appearance. Preterm deliveries, early, and consanguinity of marriage are some risk factors. Antenatal checkup of DNA for ABCA12 mutation helps in diagnosis but ultrasonography in places was not available.
Background:
‘Man-in-the-barrel syndrome’ (MIBS) is a neurological phenotype with brachial diplegia, normal sensation, and preserved motor function of the lower limb. Severe hypotension leading to watershed infarctions leading to this phenotype has been reported. The pathogenesis of MIBS is believed to be cerebral hypoperfusion leading to border zone infarctions between the territories of the anterior and middle cerebral arteries.
Case Report and Discussion:
A 49-year-old chronic alcoholic hypertensive Indian male was evaluated for barrel syndrome after a cardiac arrest. MRI confirmed hyperintensities between the territories of the anterior and middle cerebral arteries bilaterally.
Conclusion:
Person in barrel syndrome is a rare neurological syndrome. MIB is common after cerebral hypoperfusion and carries a poor prognosis. Identification of the underlying cause is important because the management and prognosis vary based on the etiology.
Harlequin Ichthyosis is a rare autosomal recessive disorder occurring in
1: 3,000,000 birth characterized by thick keratin skin with scaly
appearance. Preterm deliveries, early marriage and consanguinity of
marriage are some risk factors. Antenatal checkup of DNA for ABCA12
mutation helps in diagnosis but USG in places where not available.
Autoimmune polyglandular syndrome type 2 (APS II) is a rare autoimmune disease that affects many endocrine glands. We present a case of a 32-year-old man with Addison's disease, autoimmune thyroiditis, and pernicious anemia. Multiline and timely management are crucial for each association.
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