Abstract
MIRAGE syndrome is a rare multisystemic disorder characterized by the following manifestations: myelodysplasia, susceptibility to infections, growth retardation, adrenal hypoplasia, genital anomalies, and enteropathy. Dysautonomia has also been reported, but rarely. We present a 6.5-year-old girl, who was first admitted with short stature. On follow-up, she exhibited multiple endocrinological issues, including transient hypothyroidism, primary hypoparathyroidism and dysautonomia, along with multisystem involvement. Further investigations revealed recurrent moniliasis, low IgM levels, and transient monosomy 7 in the bone marrow. Whole exome sequencing revealed a heterozygous pathogenic variant of SAMD9 (c.2159del; p.Asn720ThrfsTer35). Additional complications observed during follow-up included medullary nephrocalcinosis, hypomagnesemia, hypomagnesuria, hypophosphatemia, decreased glomerular filtration rate, and nephrotic proteinuria. The patient also developed hyperglycemia, which was managed with low-dose insulin. This case highlights the diagnostic challenges and the diverse phenotypic presentation that may occur in MIRAGE syndrome.
Keywords: Dysautonomia, hypoparathyroidism, MIRAGE syndrome, monosomy 7, SAMD9
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