A 7-day-old male infant born to a healthy 33-year-old female at 37 weeks of gestation was brought to the local emergency department (ED) with sudden-onset tonic-clonic seizures. Laboratory testing revealed extreme hypocalcemia (ionized calcium of 3.2 mg/dl) and undetectable parathyroid hormone (PTH/ml). Concomitant evaluation of the mother revealed both elevated ionized calcium (5.9 mg/dl) and PTH (116 pg/ml). The mother underwent preoperative ultrasound localization and sestamibi scan, followed promptly by parathyroidectomy. Given the cystic appearance and presence of multiglandular disease, evaluation for familial cystic parathyroid adenomatosis (hyperparathyroidism-jaw bone-tumor syndrome) and MEN 1 were undertaken. The infant was stabilized and discharged home. He returned to the ED with seizures at 1 month of age. After increasing calcium supplementation appropriately, he was monitored with weekly office visits. This represents a unique case of undiagnosed maternal primary hyperparathyroidism manifesting with intrauterine parathyroid suppression and hypocalcemic seizures in the newborn

Cartwright, Tessa

Lee, Cortney Y.

Long, Kristin

Sloan, David A.

Journal of Surgical Case Reports

English

PubMed

K. Long

T. Cartwright

D. Sloan

C. Lee

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Cystic multiglandular maternal hyperparathyroidism diagnosed by neonatal hypocalcemic seizures

University of Kentucky

University of KentuckyUKnowledgeSurgery Faculty Publications Surgery3-25-2015Cystic Multiglandular MaternalHyperparathyroidism Diagnosed by NeonatalHypocalcemic SeizuresKristin LongUniversity of Kentucky, kristin.long@uky.eduTessa CartwrightUniversity of KentuckyDavid A. SloanUniversity of Kentucky, davidsloan@uky.eduCortney Y. LeeUniversity of Kentucky, cortney.lee@uky.eduRight click to open a feedback form in a new tab to let us know how this document benefits you.Follow this and additional works at: https://uknowledge.uky.edu/surgery_facpubPart of the Surgery CommonsThis Article is brought to you for free and open access by the Surgery at UKnowledge. It has been accepted for inclusion in Surgery Faculty Publicationsby an authorized administrator of UKnowledge. For more information, please contact UKnowledge@lsv.uky.edu.Repository CitationLong, Kristin; Cartwright, Tessa; Sloan, David A.; and Lee, Cortney Y., "Cystic Multiglandular Maternal HyperparathyroidismDiagnosed by Neonatal Hypocalcemic Seizures" (2015). Surgery Faculty Publications. 18.https://uknowledge.uky.edu/surgery_facpub/18Cystic Multiglandular Maternal Hyperparathyroidism Diagnosed by Neonatal Hypocalcemic SeizuresNotes/Citation InformationPublished in The Journal of Surgical Case Reports, v. 2015, no. 3, p. 1-3.Published by Oxford University Press and JSCR Publishing Ltd. All rights reserved. © The Author 2015. Thisis an Open Access article distributed under the terms of the Creative Commons Attribution Non-CommercialLicense (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use,distribution, and reproduction in any medium, provided the original work is properly cited. For commercialre-use, please contact journals.permissions@oup.comDigital Object Identifier (DOI)http://dx.doi.org/10.1093/jscr/rjv031This article is available at UKnowledge: https://uknowledge.uky.edu/surgery_facpub/18CAS E R E PORTCystic multiglandular maternal hyperparathyroidismdiagnosed by neonatal hypocalcemic seizuresKristin Long1,2,*, Tessa Cartwright1,2, David Sloan1,2, and Cortney Lee1,21Department of General Surgery, University of Kentucky, Lexington, KY, USA and 2Divsion of Endocrine Surgery,University of Kentucky, Lexington, KY, USA*Correspondence address. Department of General Surgery, University of Kentucky, 800 Rose Street, Lexington, KY 40536, USA. Tel: +1-214-725-6522;Fax: +1-859-323-6840; E-mail: kristin.long@uky.eduAbstractA 7-day-old male infant born to a healthy 33-year-old female at 37 weeks of gestation was brought to the local emergencydepartment (ED) with sudden-onset tonic–clonic seizures. Laboratory testing revealed extreme hypocalcemia (ionized calciumof 3.2 mg/dl) and undetectable parathyroid hormone (PTH <10 pg/ml). Concomitant evaluation of the mother revealed bothelevated ionized calcium (5.9 mg/dl) and PTH (116 pg/ml). The mother underwent preoperative ultrasound localization andsestamibi scan, followed promptly by parathyroidectomy. Given the cystic appearance and presence ofmultiglandular disease,evaluation for familial cystic parathyroid adenomatosis (hyperparathyroidism-jaw bone-tumor syndrome) and MEN 1 wereundertaken. The infant was stabilized and discharged home. He returned to the ED with seizures at 1 month of age. Afterincreasing calciumsupplementation appropriately, hewasmonitoredwithweeklyoffice visits. This represents a unique case ofundiagnosed maternal primary hyperparathyroidism manifesting with intrauterine parathyroid suppression andhypocalcemic seizures in the newborn.INTRODUCTIONPrimary hyperparathyroidism is the most common cause of hy-percalcemia in the outpatient setting. The occurrence duringpregnancy is a rare event. The incidence in pregnant reproductiveage women is reported to be 8 patients per 100 000 per year [1].The most common cause of primary hyperparathyroidism inpregnancy, as in the general population, is a single adenoma [2].In 1938, Friedrichsen described symptomatic hypocalcemia inan infant unmasking the mother’s hyperparathyroidism [3].Since this initial anecdotal publication, there have been fewerthan 20 published cases of similar presentations ofneonatalhypo-calcemia leading to a diagnosis ofmaternal hyperparathyroidism.Neonatal hypocalcemia, while fortunately rare, can bephysiologic in origin and generally resolves shortly after birth.Late-onset or symptomatic hypocalcemia, however, can causeseizures in infants and warrants investigation of both the childand themother. During the third trimester of pregnancy, calciumis actively transferred from the mother to the fetus [4]. Parathy-roid hormone (PTH) and calcitonin, on the other hand, do notcross the placental barrier and serum calcium of a neonate isoften higher than that of the mother at birth [5]. After birth,serum calcium regulation of the child is no longer dependenton the mother. Within the first 48 h, essentially all healthy new-borns have a transient period of hypocalcemia. This is a normaltransition phase due to the new dependence on their own imma-ture PTH secretion, limited dietary calcium intake, immaturerenal reabsorption, minimal skeletal calcium stores and vitaminD status [6]. Other causes of hypocalcemia are abnormalities ofvitamin D metabolism, hyperphosphatemia, hypomagnesemiaand hypercalcitonemia, which typically occur within 12–24 h ofReceived: February 16, 2015. Accepted: February 24, 2015Published by Oxford University Press and JSCR Publishing Ltd. All rights reserved. © The Author 2015.This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited.For commercial re-use, please contact journals.permissions@oup.comJournal of Surgical Case Reports, 2015 , 1–3doi: 10.1093/jscr/rjv031Case Report1;  3life [5]. Hypocalcemia can result in convulsions, arrythmias, tet-any and/or paresthesias in the hands, feet and perioral regions.Additionally, hypocalcemia may result in petechiae, hyperactivereflexes, prolonged QT waves and laryngospasms [6].Whilemost patientswith hyperparathyroidism are diagnosedoutside of pregnancy, neonatal manifestations of hypocalcemiacan be a rare initial presentation of maternal hyperparathyroid-ism. Here, we present a case of a female with multiglandularhyperparathyroidism diagnosed only after her newborn childpresented with seizures due to severe hypocalcemia.CASE REPORTA 7-day-old male infant born to a healthy 33-year-old female at37 weeks of gestation presented to the local emergency depart-ment (ED) with sudden-onset tonic–clonic seizures. He washealthy at birth, with no prenatal complications, and was stableat discharge following birth. After intubation and treatment withanti-epileptic medication, a thorough investigation commenced.Laboratory testing revealed extreme hypocalcemia (ionized cal-cium of 3.2 mg/dl) and undetectable PTH (<10 pg/ml). Concomi-tant evaluation of the mother revealed both elevated ionizedcalcium (5.9 mg/dl) and PTH (116 pg/ml). Upon further review,the mother reported a history dating back several years withvague symptoms of constipation, labile mood and fatigue duringand prior to her pregnancy. She had two other children, bornhealthy and from uncomplicated pregnancies. She denied anyhistory of bone pain, kidney stones or abdominal pain, and de-nied any family history of calcium disorders.With a diagnosis of primary hyperparathyroidism, themother then underwent preoperative ultrasound localizationand sestamibi scan. In-office ultrasound revealed an essentiallynormal thyroid with only a small subcentimeter nodule in theright inferior pole. Evaluation of the surrounding tissue for para-thyroid abnormalities revealed a large 2- to 3-cm, hypodensearea inferior to the right inferior thyroid pole. This area lackedblood flow but was not classic for parathyroid adenoma due tothe almost anechoic appearance. Evaluation of the left side ofthe neck revealed similar hypodense changes in the lower neckbut nothing as significant as seen on the right. A parathyroid nu-clear scan was performed showing two sites of sestamibi hyper-concentration, slow washout and discordance in the left neck.The patient was diagnosed with primary hyperparathyroid-ism likely due to multiglandular disease and was prepared forparathyroidectomy. After an extensive exploration, three signifi-cantly enlarged cystic glandswere identified and removed (Fig. 1).Intraoperative PTH levels dropped appropriately after parathyroi-dectomy, thyroid lobectomy and cervical thymectomy from abaseline of 104 pg/ml to a final value of 41.1 pg/ml. Pathologynoted three hypercellular, cystic parathyroid glands withmucoiddegenerationweighing 6.200, 1.846 and 0.110 g as well as a separ-ate 3 mm focus of hypercellular parathyroid tissue in the pretra-cheal tissue. The calcium the morning after surgery was normalat 8.7 mg/dl.Given the cystic appearance, age of the patient and presenceof multiglandular disease, evaluation for familial cystic parathy-roid adenomatosis (hyperparathyroidism-jaw bone-tumor syn-drome) and MEN 1 were undertaken, both of which werenormal. The infant was stabilized and discharged home. He re-turned to the EDwith seizures at 1month of age. After increasingcalcium supplementation appropriately, he was monitored withweekly office visits. Hismedicationswereweaned slowly and dis-continued at 9 months of age. He has since been maturing wellwith no further seizure activity and normal calcium levels. Themother also remains eucalcemic with a normal PTH. This repre-sents a unique case of undiagnosed maternal primary hyper-parathyroidism manifesting with intrauterine parathyroidsuppression and hypocalcemic seizures in the newborn. Fewerthan 20 similar cases have been reported in the past century ofliterature.DISCUSSIONAfter ruling outmultiple syndromes contributing to our patient’shyperparathyroidism, it was concluded that our patient sufferedfrom isolated multiglandular primary hyperparathyroidism. For-tunately, the infant in our case was able to recover parathyroidfunction over the course of 9 months of calcium supplementa-tion. Not all cases of intrauterine parathyroid suppression areable to recover andwean from supplemental calcium [7]. Undiag-nosed maternal hyperparathyroidism can lead to disastrouscomplications for infants and therefore must be considered inboth hypercalcemic pregnant patients and hypocalcemic neo-nates. After 24–48 h, a child presenting with symptomatic hypo-calcemia can represent a potentially fatal condition indicatingseverely suppressed parathyroid function and an underlyingma-ternal hyperparathyroidism. This potentially fatal presentationof the disease highlights the importance of diagnosis and treat-ment of hypercalcemia in the pregnant patient. We recommendconsidering surgery at the time of diagnosis, even during preg-nancy, to minimize dangers to both mother and infant.Figure 1: (a) Intraoperative photograph showing cystic parathyroid glands. (b)Cystic parathyroid glands.2 | K. Long et al.CONFLICT OF INTEREST STATEMENTNone declared.REFERENCES1. Heath H, Hodgson SF, Kennedy MA. Primary hyperparathyr-oidism: incidence, morbidity and potential economic impactin a community. NEJM 1980;302:189–93.2. Kohlmeier L, Marcus R. Calcium disorders of pregnancy.Endocrinol Metab Clin North Am 1995;24:15–39.3. Friedrichsen C. Hypocalcamie bei einemBrustkind undHyper-calcamie bei der Mutter. Monastsshr F Kinderheilk 1938;75:146.4. Schauberger CW, Pitkin RM. Maternal-perinatal calcium rela-tionships. Obstet Gynecol 1979;53:74–6.5. Jain A. Hypocalcemia in the newborn. Indian J Pediatr2010;77:1123–8.6. Linarelli LG. Newborn urinary cyclicAMPanddevelopmental re-sponsiveness to parathyroid hormone. Pediatrics 1972;50:14–23.7. Kokrdova Z. Pregnancy and primary hyperparathyroidism.J Obstet Gynaecol 2010;30:57–9.Multiglandular primary hyperparathyroidism diagnosed by hypocalcemic seizures | 3

Cystic Multiglandular Maternal Hyperparathyroidism Diagnosed by Neonatal Hypocalcemic Seizures

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Cystic Multiglandular Maternal Hyperparathyroidism Diagnosed by Neonatal Hypocalcemic Seizures

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