Repeated epistaxis caused by primary hyperparathyroidism with multiple brown tumors: One case report / 中华内分泌代谢杂志

To report the clinical, imaging and pathological feature of a case of primary hyperparathyroidism(PHPT) with multiple brown tumors whose complain was repeated epistaxis, and to conduct a retrospective analysis with relevant literatures. A postmenopausal middle-aged woman, with a history of joint pain, fracture, and kidney stone which were neglected due to the lack of specificity of symptoms for years, went to hospital due to repeated epistaxis. Laboratory results showed high blood calcium, hypophosphatemia, alkaline phosphatase(ALP), and parathyroid hormone(PTH) levels, as well as increased urinary calcium. Imaging examination showed systemically multiple brown tumors and extensive osteoporosis. Meanwhile an abnormal mass was found behind the right thyroid. Taking all findings into account, the diagnosis was made with PHPT, and the histopathology further confirmed that the lesion was a parathyroid adenoma. This case seems to be a rare case of multiple brown tumor caused by parathyroid adenoma, which compressed and destructed nasal blood vessels, thus induced a repeated nasal discharge. After resection of parathyroid adenoma, the patient experienced a transient hypocalcemia and PTH level elevation. After 5-month follow up, part of the brown tumors spontaneously regressed, bone density increased, and her clinical symptoms were mostly relieved.

Addison disease as presenting manifestation of one patient with adrenoleukodystrophy and identification of a novel ABCD1 gene mutation / 中华内分泌代谢杂志

Objective@#To identify the clinical manifestations, imaging findings, and genetic mutation characteristics in a rare case of adrenoleukodystrophy(ALD)with adrenocortical dysfunction(Addison′s disease)as the first manifestation.@*Methods@#The clinical data of the proband and his family members were comprehensively collected, and ABCDl gene sequencing was meticulously performed for the proband and his mother using high-throughput sequencing method.@*Results@#The patient presented with systematical skin pigmentation accompanied by fatigue in early stage, arose stroke-like episodes manifested as a sudden loss of consciousness and incontinence induced by high fever, and followed by progressive unclear speech, unstable walking and worsening vision. Serum very long-chain fatty acid(VLCFA)concentration increased over normal range. The brain MRI showed an abnormal signal of the symmetric distribution of the bilateral corpus callosum. A new c. 874_876del GAG hemizygous variation in the patient′s ABCD1 gene was detected, while his mother had a nucleotide heterozygous variation to this site .@*Conclusion@#The diagnosis of ALD requires a combination of clinical manifestations, imaging examination, and serum VLCFA level measurement, while the detection of ABCD1 gene mutations is considered to be the most reliable approach.

One case of adrenoleukodystrophy with initial Addison disease and identification of a novel ABCD1 gene mutation / 中华内分泌代谢杂志

Objective To identify the clinical manifestations, imaging findings, and genetic mutation characteristics in an uncommon case of adrenoleukodystrophy ( ALD) with adrenocortical dysfunction ( Addison's disease) as the first manifestation. Methods The clinical data of the proband and his family members were comprehensively collected, and ABCDl gene sequencing was meticulously performed for the proband and his mother using high-throughput sequencing method. Results The patient presented with systematical skin pigmentation accompanied by fatigue in early stage, arose stroke-like episodes manifested as a sudden loss of consciousness and incontinence induced by high fever, and followed by progressive unclear speech, unstable walking and worsening vision. Serum very long-chain fatty acid (VLCFA) concentration increased over normal range. The brain MRI showed an abnormal signal of the symmetric distribution of the bilateral corpus callosum. A new c. 874 876del GAG hemizygous variation in the patient's ABCD1 gene was detected, while his mother had a nucleotide heterozygous variation to this site . Conclusion The diagnosis of ALD requires a combination of clinical manifestations, imaging examination, and serum VLCFA levels, while the detection of ABCD1 gene mutations is considered to be the most reliable approach.