Abstract
Background. Griscelli syndrome (GS) is a rare disorder characterized by partial albinism and silver hair with alteration in genes necessary for melanin transport. Type 2 GS is fatal due to severe immunodeficiency without curative stem cell transplant (SCT). Late endocrinopathies are quite common in other disorders after SCT. These complications have not been reported in GS. Case Presentation. A 7-year-old female presented for growth failure with a history of GS status post curative SCT and consequently developed graft-versus-host disease (GvHD). She also had a history of eosinophilic enterocolitis, for which she was taking supraphysiologic glucocorticoids for the past year. She presented with severe short stature along with mild hyperthyroxinemia with subsequent diagnosis of Graves' disease, which was treated with methimazole. GH therapy was commenced due to persistent growth failure, with a robust increase in growth parameters. She started spontaneous puberty; however, initial biochemical evaluation revealed hypergonadotropic hypogonadism with undetectable anti-Mullerian hormone (AMH) consistent with low ovarian reserve and premature ovarian failure. Discussion. Growth failure was multifactorial due to her inflammatory condition and poor weight gain from multiple underlying illnesses, including hyperthyroidism, as well as chronic supraphysiologic glucocorticoid use. Although hypothyroidism is more commonly seen after SCT, rare cases of hyperthyroidism have been reported. In addition to SCTs, GvHD and GS have been associated with autoimmune conditions. It is important to monitor pubertal progression as the majority of those treated with alkylating agents prior to SCT have pubertal and ovarian failure and remain at risk for premature menopause.
Highlights
Griscelli syndrome (GS) was first described in 1978, and only approximately 150 cases have been reported in the literature [1, 2]. ere are three types of GS, which is an autosomal recessive disease with a phenotype of hypopigmentation and silvery hair due to defects in genes that regulate melanin transport [2].Our patient was diagnosed with type 2 Griscelli syndrome, which is due to a mutation in RAB27A, an important component of cytotoxic granule exocytosis. is leads to excessive activation of macrophages and hemophagocytic lymphohistiocytosis [3]
We present a unique presentation highlighting a plethora of endocrinopathies that can be seen after stem cell transplant (SCT) in GS type 2 patients with use of chemotherapeutic agents and chronic supraphysiologic glucocorticoids
In particular, are highly susceptible to chemotherapy and irradiation due to a high proportion of growing cells [4]. e rates of various endocrinopathies after SCT can be seen in Table 1. is case reviews the pathophysiology of growth failure in those with a complex medical history, which is often multifactorial
Summary
Griscelli syndrome (GS) is a rare disorder characterized by partial albinism and silver hair with alteration in genes necessary for melanin transport. A 7-year-old female presented for growth failure with a history of GS status post curative SCT and developed graft-versus-host disease (GvHD). She had a history of eosinophilic enterocolitis, for which she was taking supraphysiologic glucocorticoids for the past year. She presented with severe short stature along with mild hyperthyroxinemia with subsequent diagnosis of Graves’ disease, which was treated with methimazole. GH therapy was commenced due to persistent growth failure, with a robust increase in growth parameters. Hypothyroidism is more commonly seen after SCT, rare cases of hyperthyroidism have been reported. It is important to monitor pubertal progression as the majority of those treated with alkylating agents prior to SCT have pubertal and ovarian failure and remain at risk for premature menopause
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