MRI for Growth hormone deficiency

MRI for Growth hormone deficiency

In patients with severe growth hormone deficiency and patients with multiple pituitary hormone deficiencies, MRI is more likely to be abnormal, and bone age is much delayed in patients with a history of prenatal disorder1)

MRI is indicated to rule out calcifications, tumors, and structural anomalies. But preliminary data indicate that most brain MRIs performed for routine evaluation of children with isolated growth hormone deficiency (IGHD) are not essential for determining the cause. Further studies with larger cohorts are needed in order to validate this proposed revision of current protocols 2).

Patients with abnormal MRI findings show a more favorable response to GH replacement therapy 3).


Pathogenic MRIs were uncommon in patients diagnosed with GHD except in the group with peak GH<3 ng/mL. There was a high frequency of incidental findings which often resulted in referrals to neurosurgery and repeat MRIs. Given the high cost of brain MRIs, their routine use in patients diagnosed with isolated GHD, especially patients with a peak GH of 7-10 ng/mL, should be reconsidered 4).


Xu et al. verified the advantages of using magnetic resonance imaging (MRI) for improving the diagnostic quality of growth hormone deficiency (GHD) in children with short stature caused by pituitary lesions. Clinical data obtained from 577 GHD patients with short stature caused by pituitary lesions were retrospectively analyzed. There were 354 cases (61.3%) with anterior pituitary dysplasia; 45 cases (7.8%) of pituitary stalk interruption syndrome (PSIS); 15 cases (2.6%) of pituitary hyperplasia due to primary hypothyroidism; 38 cases (6.6%) of Rathke cleft cyst; 68 cases (11.8%) of empty sella syndrome; 16 cases (2.8%) of pituitary invasion from Langerhans cell histiocytosis; 2 cases (0.3%) of sellar regional arachnoid cyst and 39 cases (6.8%) of craniopharyngioma. MRI results showed that the height of anterior pituitary in patients was less than normal. Location, size and signals of posterior pituitary and pituitary stalk were normal in anterior pituitary dysplasia. In all cases pituitary hyperplasia was caused by hypothyroidism. MRI results showed that anterior pituitary was enlarged, and we detected upward apophysis and obvious homogeneous enhancement. There were no pituitary stalk interruption and abnormal signal. We also observed that after hormone replacement therapy the size of pituitary gland was reduced. Anterior pituitary atrophy was observed in Rathke cleft cyst, empty sella syndrome, sellar regional arachnoid cyst and craniopharyngioma. The microstructure of hypophysis and sellar region was studied with MRI. We detected pituitary lesions, and the characteristics of various pituitary diseases of GHD in children with short stature. It was concluded that in children with GHD caused by pituitary lesions, MRI was an excellent method for early diagnosis. This method offers clinical practicability and we believe it can be used for differential diagnosis and to monitor the therapeutic effects 5).


1)

Naderi F, Eslami SR, Mirak SA, Khak M, Amiri J, Beyrami B, Shekarchi B, Poureisa M. Effect of growth hormone deficiency on brain MRI findings among children with growth restrictions. J Pediatr Endocrinol Metab. 2015 Jan;28(1-2):117-23. doi: 10.1515/jpem-2013-0294. PMID: 25153566.
2)

Oren A, Singer D, Rachmiel M, Hamiel U, Shiran SI, Gruber N, Levy-Shraga Y, Modan-Moses D, Eyal O. Questioning the Value of Brain Magnetic Resonance Imaging in the Evaluation of Children with Isolated Growth Hormone Deficiency. Horm Res Paediatr. 2020;93(4):245-250. doi: 10.1159/000509366. Epub 2020 Aug 24. PMID: 32836222.
3)

Ariza Jiménez AB, Martínez Aedo Ollero MJ, López Siguero JP. Differences between patients with isolated GH deficiency based on findings in brain magnetic resonance imaging. Endocrinol Diabetes Nutr. 2020 Feb;67(2):78-88. English, Spanish. doi: 10.1016/j.endinu.2019.09.001. Epub 2019 Nov 14. PMID: 31734177.
4)

Schmitt J, Thornton P, Shah AN, Rahman AKMF, Kubota E, Rizzuto P, Gupta A, Orsdemir S, Kaplowitz PB. Brain MRIs may be of low value in most children diagnosed with isolated growth hormone deficiency. J Pediatr Endocrinol Metab. 2021 Feb 22. doi: 10.1515/jpem-2020-0579. Epub ahead of print. PMID: 33618442.
5)

Xu C, Zhang X, Dong L, Zhu B, Xin T. MRI features of growth hormone deficiency in children with short stature caused by pituitary lesions. Exp Ther Med. 2017 Jun;13(6):3474-3478. doi: 10.3892/etm.2017.4377. Epub 2017 Apr 24. PMID: 28587427; PMCID: PMC5450600.

Factor V deficiency

Factor V deficiency

Factor V deficiency is also known as Owren’s disease or parahemophilia. It’s a rare bleeding disorder that results in poor clotting after an injury or surgery. Factor V deficiency shouldn’t be confused with factor V Leiden mutation, a much more common condition that causes excessive blood clotting.

Factor V deficiency may also occur at the same time as factor VIII deficiency, producing more severe bleeding problems. The combination of factor V and factor VIII deficiencies is considered to be a separate disorder.


FV inhibitors are a common complication of bovine thrombin exposure that can have devastating clinical consequences. Transfusion medicine specialists and hematologists can play a critical role in reducing the incidence of FV inhibitors by educating the medical community about safer alternative fibrin sealant1).

Case reports

Meidert et al., report the case of an 82 year old woman with incidentally diagnosed severe factor V deficiency, who developed a symptomatic chronic subdural hematoma, requiring burrhole craniostomy. Successful management was achieved by a multidisciplinary approach. Preoperatively, factor V activity was increased from 2 % to 50 % by administration of 25 ml/kg body weight of fresh frozen plasma (FFP) over 30 minutes under close cardiopulmonary monitoring on ICU. Straight afterwards, the patient was transferred to the operating room where surgery was performed under general anesthesia. Burr-hole craniostomy could be performed without perioperative complications. In the postoperative days there was no relevant recurrence of the subdural hematoma in the follow-up CT scans under frequent control of coagulation parameters. However, despite further transfusion of FFP, factor V activity did not increase above 16%.

The patient was discharged without any neurological deficits. In a hemostaseologic follow-up two months after surgery, factor V activity below 1% was confirmed with evidence of a factor V inhibitor in the modified Bethesda assay. Most likely, the patient suffered from an acquired form of factor V deficiency with preformed antibodies that had been boosted by the initial treatment with FFP.

They conclude that in this rare bleeding disorder, intracranial surgery was successfully managed due to a thoroughly planned perioperative therapeutic strategy. However, if there is time prior to surgery, a full check-up of the bleeding disorder is advisable 2).


Cavum vergae bleed in a term neonate with severe factor V deficiency 3).


Lee et al., reported a newborn infant girl, born to consanguineous parents, with recurrent intracranial hemorrhage secondary to congenital factor V deficiency with factor V inhibitor. Repeated transfusions of fresh-frozen plasma (FFP) and platelet concentrates, administrations of immunosuppressive therapy (prednisolone and cyclophosphamide), and intravenous immunoglobulin failed to normalize the coagulation profiles. Exchange transfusion followed-up by administrations of activated Prothrombin complex concentrate and transfusions of FFP and platelet concentrates caused a temporary normalization of coagulation profile, enabling an insertion of ventriculoperitoneal shunt for progressive hydrocephalus. The treatment was complicated by thrombosis of left brachial artery and ischemia of left middle finger. The child finally died from another episode of intracranial hemorrhage 10 days after insertion of the VP shunt. 4).

References

1)

Streiff MB, Ness PM. Acquired FV inhibitors: a needless iatrogenic complication of bovine thrombin exposure. Transfusion. 2002 Jan;42(1):18-26. Review. PubMed PMID: 11896308.
2)

Meidert AS, Kinzinger J, Möhnle P, Pekrul I, Spiekermann K, Thorsteinsdottir J, Briegel J, Huge V. Perioperative management of a patient with severe factor V deficiency presenting with chronic subdural hematoma: a clinical report. World Neurosurg. 2019 Apr 15. pii: S1878-8750(19)31072-1. doi: 10.1016/j.wneu.2019.04.080. [Epub ahead of print] PubMed PMID: 30999086.
3)

Udayakumaran S. Cavum vergae bleed in a term neonate with severe factor V deficiency. J Pediatr. 2014 Apr;164(4):944. doi: 10.1016/j.jpeds.2013.11.005. Epub 2013 Dec 31. PubMed PMID: 24388321.
4)

Lee WS, Chong LA, Begum S, Abdullah WA, Koh MT, Lim EJ. Factor V inhibitor in neonatal intracranial hemorrhage secondary to severe congenital factor V deficiency. J Pediatr Hematol Oncol. 2001 May;23(4):244-6. PubMed PMID: 11846304.
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