Figure 1
Teaching Case
SectionNeuroradiology
Case TypeClinical Cases
Authors
DR. Daniel Adri
DR. Juan Manuel Villegas
DR. Marcelo Pietrani
Connected authors
27 years, female
27 years old female who initially presented amenorrhea, hypogonadism and syncopal episodes, with an EKG with atrial fibrillation, a laboratory with alteration of the hepatogram and serum ferritin of 5000 ng/mL.
Juvenile Hemochromatosis
Pituitary hemorrhage
Melanoma metastasis
Rathke pouch cyst
Aneurism
MRI shows an hypointense in T1 and T2 WS pituitary gland with no intravenous contrast enhancement, findings compatible with hemosiderin deposits.
Hepatic MRI was performed, which reported a severe hepatic iron overload.
Hepatic MRI was performed, which reported a severe hepatic iron overload.
Hemochromatosis is a disorder characterized by excessive iron deposition in reticular tissue affecting mainly the liver and heart [1, 2]. Etiologically, it can be classified as a genetic (or primary) cause, or acquired (or secondary) [1].
Primary hemochromatosis usually manifests in the fifth decade of life, but when it manifests in people younger than 30 years it is called juvenile hemochromatosis (JH) like in our case , a more severe variant due to the involvement of two genes ( autosomal recessive).
JH presents multisystemic affectation, producing cirrhosis, diabetes mellitus, myocardiopathy, cutaneous pigmentation and hypogonadism (afecting CNS organs that are not incorporated in the blood-brain barrier such as pineal gland, choroid plexus and pituitary gland). [2]
When the iron capacity is saturated it can accumulate, among others, in the hypophysis, most commonly manifesting as hypogonadotrophic hypogonadism [1, 3, 4]. The iron overload in the pituitary gland can be demonstrated with MRI given the superparamagnetic conditions. In pituitary hemochromatosis, a signal drop in the T2 WS of the neurohypophysis is observed pathognomonicly and, in more advanced cases, signal drop in T1 WS can be observed, which can be accompanied by a decrease in pituitary volume [1, 4]. The most sensitive sequence for the detection of iron deposition is the T2 * gradient echo sequence (GRE) demonstrating a marked decrease in the signal intensity. [1, 4, 5]
Among the entities that could present a shortening in T2 WS are pituitary hemorrhage, melanoma metastasis, an aneurysm that generates flow void, a Rathke pouch cyst or other tumors that have calcifications (chordoma, craniopharyngioma).[5]
Treatment is based on bleeding and chelation therapy
TEACHING POINT
1)Juvenile Hemochromatosis with pituitary affection manifests clinically as hypogonadotropic hypogonadism
2) MRI detects iron as a low intensity signal in T2 WS and, in advance cases, also in T1 WS
3) The most sensitive sequence for the detection of iron deposition is T2* GRE, showing a low signal intensity
Written informed patient consent for publication has been obtained.
Primary hemochromatosis usually manifests in the fifth decade of life, but when it manifests in people younger than 30 years it is called juvenile hemochromatosis (JH) like in our case , a more severe variant due to the involvement of two genes ( autosomal recessive).
JH presents multisystemic affectation, producing cirrhosis, diabetes mellitus, myocardiopathy, cutaneous pigmentation and hypogonadism (afecting CNS organs that are not incorporated in the blood-brain barrier such as pineal gland, choroid plexus and pituitary gland). [2]
When the iron capacity is saturated it can accumulate, among others, in the hypophysis, most commonly manifesting as hypogonadotrophic hypogonadism [1, 3, 4]. The iron overload in the pituitary gland can be demonstrated with MRI given the superparamagnetic conditions. In pituitary hemochromatosis, a signal drop in the T2 WS of the neurohypophysis is observed pathognomonicly and, in more advanced cases, signal drop in T1 WS can be observed, which can be accompanied by a decrease in pituitary volume [1, 4]. The most sensitive sequence for the detection of iron deposition is the T2 * gradient echo sequence (GRE) demonstrating a marked decrease in the signal intensity. [1, 4, 5]
Among the entities that could present a shortening in T2 WS are pituitary hemorrhage, melanoma metastasis, an aneurysm that generates flow void, a Rathke pouch cyst or other tumors that have calcifications (chordoma, craniopharyngioma).[5]
Treatment is based on bleeding and chelation therapy
TEACHING POINT
1)Juvenile Hemochromatosis with pituitary affection manifests clinically as hypogonadotropic hypogonadism
2) MRI detects iron as a low intensity signal in T2 WS and, in advance cases, also in T1 WS
3) The most sensitive sequence for the detection of iron deposition is T2* GRE, showing a low signal intensity
Written informed patient consent for publication has been obtained.
References
[1] Angelopoulos NG, Goula A, Dimitriou E, Tolis G. (2005) Reversibility of hypogonadotropic hypogonadism in a patient with the juvenile form of hemochromatosis. Fertility and Sterility 84(6):1744 (PMID: 16359978)
[2] Cooray SD, Heerasing NM, Selkrig LA, Subramaniam VN, Hamblin PS, McDonald CJ, McLean CA, McNamara E, Leet AS, Roberts SK. (2018) Reversal of end-stage heart failure in juvenile hemochromatosis with iron chelation therapy: a case report. J Med Case Rep 12(1):18 (PMID: 29373985)
[3] Christoforidis A, Haritandi A, Perifanis V, Tsatra I, Athanassiou-Metaxa M, Dimitriadis AS. (2007) MRI for the determination of pituitary iron overload in children and young adults with beta-thalassaemia major. Eur J Radiol 62(1):138-42 (PMID: 17161570)
[4] Gianvincenzo Sparacia, Alberto Iaia, Aurelia Banco, Paolo D'Angelo, Roberto Lagalla (2000) Transfusional Hemochromatosis: Quantitative Relation of MR Imaging Pituitary Signal Intensity Reduction to Hypogonadotropic Hypogonadism. Radiology Volume 215, Issue 3. Pages 818–823
[5] Bonneville, J.-F., Bonneville, F., Cattin, F., Nagi, S (2016) MRI of the Pituitary Gland. Pages 327-328
Case information
| URL: | https://eurorad.org/case/16136 |
| DOI: | 10.1594/EURORAD/CASE.16136 |
| ISSN: | 1563-4086 |
License
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
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Figure 1
Italian Hospital of Buenos Aires
Figure 2
Italian Hospital of Buenos Aires
Figure 3
Italian Hospital of Buenos Aires
Figure 4
Hospital Italiano de Buenos Aires