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Article ; Online: A Lytic Bone Lesion in a 23-month-old Boy from Kenya.

Goren, Lea R / Lehman, Alice C / Luquette, Mark / Howard, Cynthia / Thielen, Beth K

2024 Volume 45, Issue 4, Page(s) 225–229

MeSH term(s)	Male ; Humans ; Infant ; Child, Preschool ; Kenya ; Bone Diseases
Language	English
Publishing date	2024-03-31
Publishing country	United States
Document type	Journal Article
ZDB-ID	774515-1
ISSN	1526-3347 ; 0191-9601
ISSN (online)	1526-3347
ISSN	0191-9601
DOI	10.1542/pir.2021-005473
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Article ; Online: Congenital Infantile Fibrosarcoma Involving Pelvic Wall and Thigh Soft Tissues and Placenta, Presenting with Coagulopathy.

Naumchik, Brianna / Weigel, Brenda J / Murati, Michael A / Rudzinski, Erin / Paulson, Vera / Lockwood, Christina M / Dolan, Michelle / Flanagan, Siobhan / Luquette, Mark

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

2022 Volume 25, Issue 6, Page(s) 656–660

Abstract: Infantile fibrosarcoma (IF) is a well characterized pediatric malignancy marked by gene rearrangements involving members of the NTRK family. In this report, we present a case of IF that presented in the inguinal region-proximal thigh and was initially ... ...

Abstract	Infantile fibrosarcoma (IF) is a well characterized pediatric malignancy marked by gene rearrangements involving members of the NTRK family. In this report, we present a case of IF that presented in the inguinal region-proximal thigh and was initially thought to be a kaposiform hemangioendothelioma (KHE) because it presented with a bleeding diathesis thought to be Kasabach-Merritt phenomenon (KMP). Subsequently, the placental examination showed a neoplasm in the perivascular-subendothelial space of stem villi, initially thought to be myofibromatosis. Ultimately, a biopsy of the thigh mass showed IF with an NTRK3-ETV6 fusion. Subsequent FISH analysis of the placenta showed an ETV6 rearrangement confirming that it was also IF. Review of the laboratory studies suggests that disseminated intravascular coagulation may have been more likely than KMP, highlighting the difficulty in making this distinction in some cases. We believe this to be the first report of an IF presenting in a soft tissue site and the placenta, and discuss the possible mechanisms that could have allowed the IF in the leg to spread to the placenta.
Language	English
Publishing date	2022-07-14
Publishing country	United States
Document type	Journal Article
ZDB-ID	1463498-3
ISSN	1615-5742 ; 1093-5266
ISSN (online)	1615-5742
ISSN	1093-5266
DOI	10.1177/10935266221114017
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Article ; Online: Visual Diagnosis: Tension Pneumothorax with Evolving Cysts in an Infant.

Stein, Ariel / Molero, Helena / Hess, Donavon / Luquette, Mark / Pitt, Michael B

Pediatrics in review

2020 Volume 41, Issue 11, Page(s) e42–e45

MeSH term(s)	Cysts ; Humans ; Infant ; Lung Diseases ; Pneumothorax/diagnosis ; Pneumothorax/etiology
Language	English
Publishing date	2020-11-03
Publishing country	United States
Document type	Journal Article
ZDB-ID	774515-1
ISSN	1526-3347 ; 0191-9601
ISSN (online)	1526-3347
ISSN	0191-9601
DOI	10.1542/pir.2018-0062
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Article ; Online: Hematopoietic cell transplantation for severe MPS I in the first six months of life: The heart of the matter.

Braunlin, Elizabeth / Miettunen, Kelly / Lund, Troy / Luquette, Mark / Orchard, Paul

Molecular genetics and metabolism

2018 Volume 126, Issue 2, Page(s) 117–120

Abstract: Background: Hematopoietic cell transplantation (HCT) is accepted therapy for severe mucopolysaccharidosis type I (MPS IH). With implementation of newborn screening (NBS) for MPS I in the US, HCT may now occur earlier than 1-2 years of age and it might ... ...

Abstract	Background: Hematopoietic cell transplantation (HCT) is accepted therapy for severe mucopolysaccharidosis type I (MPS IH). With implementation of newborn screening (NBS) for MPS I in the US, HCT may now occur earlier than 1-2 years of age and it might be assumed that cardiac issues will be fewer. To examine this hypothesis, we reviewed our records for any MPS IH infant who underwent HCT at ≤6 months of age. Study patients: Pre- and (most recent) post-HCT cardiac echos and clinical courses were reviewed in all infants with MPS IH undergoing HCT at ≤6 months of age. Results: 7 MPS IH infants (4 M) who were diagnosed at median (range) (MEDRNG) of 14 (3, 22) days of life (DOL) by NBS [2] or because an older sib had MPS IH [5], began enzyme replacement therapy at MEDRNG of 48 (7, 62) DOL. First pre-HCT echo was performed at MEDRNG of 45 (0, 88) DOL. HCT (6 cord blood, 1 related) occurred at MEDRNG of 131 (105, 183) DOL with most recent echo at MEDRNG of 408 (10, 1897) days after HCT. Mitral regurgitation (≥mild) occurred before (2/7) and after (2/7) HCT; LVH (2/7) occurred after HCT; PFO was common before (5/7) and after (3/7) HCT. One infant had severely decreased function at initial echo and required ICU management. Another infant with a patent foramen ovale and indwelling central line required additional neuroimaging to determine the cause of a seizure. A final infant died unexpectedly 69 days post-HCT without evidence of occlusive coronary disease at autopsy. Conclusions: In addition to the traditional phenotypic features of severe MPS I, newborns presenting for HCT have cardiac and non-cardiac problems unique to their young age. Recognition of these issues is essential for optimal outcomes.
MeSH term(s)	Enzyme Replacement Therapy ; Female ; Heart/physiopathology ; Hematopoietic Stem Cell Transplantation ; Humans ; Infant ; Infant, Newborn ; Male ; Mucopolysaccharidosis I/diagnosis ; Mucopolysaccharidosis I/therapy ; Neonatal Screening
Language	English
Publishing date	2018-11-13
Publishing country	United States
Document type	Journal Article
ZDB-ID	1418518-0
ISSN	1096-7206 ; 1096-7192
ISSN (online)	1096-7206
ISSN	1096-7192
DOI	10.1016/j.ymgme.2018.11.007
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Article ; Online: Success of chemotherapy and a liver transplant in a pediatric patient with hepatic angiosarcoma: A case report.

Pilbeam, Kristy / Eidenschink, Ben / Sulciner, Megan / Luquette, Mark / Neglia, Joseph / Chinnakotla, Srinath

Pediatric transplantation

2019 Volume 23, Issue 4, Page(s) e13410

Abstract: Hepatic angiosarcoma is an extremely rare diagnosis in children, with fewer than 50 pediatric cases reported in the literature worldwide. This aggressive vascular sarcoma carries a very dismal prognosis and is known to be resistant to radiation, ... ...

Abstract	Hepatic angiosarcoma is an extremely rare diagnosis in children, with fewer than 50 pediatric cases reported in the literature worldwide. This aggressive vascular sarcoma carries a very dismal prognosis and is known to be resistant to radiation, chemotherapy, and other vascular-targeted agents. Complete surgical resection is felt to provide the best chance for long-term survival. In patients with tumors not amenable to resection, a liver transplant can be considered. However, very few such transplants have been reported, given that they remain controversial due to high cancer recurrence and mortality post-transplant. Herein, we report the unique case of a 2-year-old child with localized hepatic angiosarcoma not amendable to resection who successfully underwent a liver transplant and received chemotherapy with six cycles of doxorubicin, docetaxel, and ifosfamide.
MeSH term(s)	Antineoplastic Agents/pharmacology ; Biopsy ; Child, Preschool ; Docetaxel/administration & dosage ; Doxorubicin/administration & dosage ; Female ; Hemangiosarcoma/surgery ; Humans ; Ifosfamide/administration & dosage ; Liver/diagnostic imaging ; Liver Neoplasms/surgery ; Liver Transplantation ; Neoplasm Recurrence, Local ; Treatment Outcome
Chemical Substances	Antineoplastic Agents ; Docetaxel (15H5577CQD) ; Doxorubicin (80168379AG) ; Ifosfamide (UM20QQM95Y)
Language	English
Publishing date	2019-04-23
Publishing country	Denmark
Document type	Case Reports
ZDB-ID	1390284-2
ISSN	1399-3046 ; 1397-3142
ISSN (online)	1399-3046
ISSN	1397-3142
DOI	10.1111/petr.13410
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Zs.A 4947: Show issues

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Article ; Online: Sporadic Insulinoma Presenting as Early Morning Night Terrors.

Beisang, Daniel / Forlenza, Gregory P / Luquette, Mark / Sarafoglou, Kyriakie

Pediatrics

2017 Volume 139, Issue 6

Abstract: A 16-year-old boy with a recent diagnosis of night terrors was evaluated for recurrent early morning hypoglycemia after an early morning seizure. Evaluation in clinic with critical laboratories identified hyperinsulinemic hypoglycemia. Additional ... ...

Abstract	A 16-year-old boy with a recent diagnosis of night terrors was evaluated for recurrent early morning hypoglycemia after an early morning seizure. Evaluation in clinic with critical laboratories identified hyperinsulinemic hypoglycemia. Additional investigation revealed a sporadic insulinoma as the etiology of his hypoglycemia and all symptoms were resolved after pancreaticoduodenectomy. The importance of obtaining critical laboratory samples is highlighted and appropriate radiologic, medical, and pathologic testing is discussed. We additionally review the medical and surgical management of hyperinsulinemic hypoglycemia. A discussion of multiple endocrine neoplasia type 1 associated insulinomas is included as well. This case highlights the importance of considering hypoglycemia in the evaluation of night terrors and new-onset seizures.
MeSH term(s)	Adolescent ; Humans ; Hypoglycemia/etiology ; Insulin ; Insulinoma/diagnosis ; Insulinoma/surgery ; Magnetic Resonance Imaging ; Male ; Night Terrors/etiology ; Pancreatic Neoplasms/diagnosis ; Pancreatic Neoplasms/surgery ; Pancreaticoduodenectomy/methods
Chemical Substances	Insulin
Language	English
Publishing date	2017-06
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	207677-9
ISSN	1098-4275 ; 0031-4005
ISSN (online)	1098-4275
ISSN	0031-4005
DOI	10.1542/peds.2016-2007
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Um IV Zs.131: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
Zs.MO 357: Show issues

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Article ; Online: Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter.

Oltvai, Zoltán N / Smith, Eric A / Wiens, Katie / Nogee, Lawrence M / Luquette, Mark / Nelson, Andrew C / Wikenheiser-Brokamp, Kathryn A

Cold Spring Harbor molecular case studies

2020 Volume 6, Issue 3

Abstract: The ATP-binding cassette transporter member A3 (ABCA3) is a lipid transporter with a critical function in pulmonary surfactant biogenesis. Biallelic loss-of-function mutations ... ...

Abstract	The ATP-binding cassette transporter member A3 (ABCA3) is a lipid transporter with a critical function in pulmonary surfactant biogenesis. Biallelic loss-of-function mutations in
MeSH term(s)	ATP-Binding Cassette Transporters/genetics ; ATP-Binding Cassette Transporters/metabolism ; Biopsy ; DNA Mutational Analysis ; Disease Progression ; Genetic Association Studies/methods ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Immunohistochemistry ; Infant, Newborn ; Lung Transplantation ; Male ; Mutation ; Phenotype ; Respiratory Function Tests ; Respiratory Insufficiency/diagnosis ; Respiratory Insufficiency/genetics ; Respiratory Insufficiency/surgery ; Treatment Outcome
Chemical Substances	ABCA3 protein, human ; ATP-Binding Cassette Transporters
Language	English
Publishing date	2020-06-12
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2835759-0
ISSN	2373-2873 ; 2373-2873
ISSN (online)	2373-2873
ISSN	2373-2873
DOI	10.1101/mcs.a005074
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Article ; Online: Plasma Cell Myeloma in Children and Young Adults: A Report of 4 Cases From a Single Institution and a Review of the Literature.

Yohe, Sophia / Luquette, Mark / Lund, Troy C / Turcotte, Lucie M / Dolan, Michelle / McKenna, Robert W

Journal of pediatric hematology/oncology

2017 Volume 39, Issue 6, Page(s) 452–457

Abstract: Plasma cell myeloma (PCM) is rare in children and young adults and therefore may be difficult to diagnose. Here we report the clinicopathologic findings of 4 patients under the age of 30 diagnosed with PCM at our institution and summarize the literature ... ...

Abstract	Plasma cell myeloma (PCM) is rare in children and young adults and therefore may be difficult to diagnose. Here we report the clinicopathologic findings of 4 patients under the age of 30 diagnosed with PCM at our institution and summarize the literature about 48 other cases of PCM in this age group. The male:female ratio was 1.2:1 and the number of cases increased with age. Children and young adults with PCM often present with a plasmacytoma and are less likely to have asymptomatic PCM than their adult counterparts. From the cases that reported ethnicity, the majority (55%) were non-white suggesting a possible ethnic predisposition to PCM in this age group. PCM should be included in the differential diagnosis of mass lesions, especially a destructive bony lesion, after more common causes have been ruled out in this age group. The optimal treatment for PCM in this patient population is unclear and conclusions into this are hampered by the paucity of cases and the lack of standardized follow-up.
MeSH term(s)	Adolescent ; Adult ; Age Factors ; Diagnosis, Differential ; Female ; Humans ; Male ; Multiple Myeloma/diagnosis ; Multiple Myeloma/ethnology ; Plasma Cells/pathology ; Plasmacytoma/diagnosis ; Young Adult
Language	English
Publishing date	2017-03-27
Publishing country	United States
Document type	Journal Article
ZDB-ID	1231152-2
ISSN	1536-3678 ; 1077-4114 ; 0192-8562
ISSN (online)	1536-3678
ISSN	1077-4114 ; 0192-8562
DOI	10.1097/MPH.0000000000000907
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Article ; Online: Verrucous hemangioma of the glans penis.

Akyol, Ilker / Jayanthi, Venkata R / Luquette, Mark H

Urology

2008 Volume 72, Issue 1, Page(s) 230.e15–6

Abstract: Verrucous hemangioma (VH) is a hyperkeratotic lesion usually presenting in infancy, occurring primarily on the extremities. We report a 5-year-old boy with VH in the glans penis and discuss briefly the hyperkeratotic vascular stains, which constitute a ... ...

Abstract	Verrucous hemangioma (VH) is a hyperkeratotic lesion usually presenting in infancy, occurring primarily on the extremities. We report a 5-year-old boy with VH in the glans penis and discuss briefly the hyperkeratotic vascular stains, which constitute a heterogenous group. During a 7-year follow-up, the patient received various local treatments, but the lesion regrew to its original size after each treatment until the second deep excision after which no more recurrences have been observed for 3 years now. VH in this location has never been reported.
MeSH term(s)	Child, Preschool ; Hemangioma/pathology ; Humans ; Male ; Penile Neoplasms/pathology ; Penis/pathology ; Warts/pathology
Language	English
Publishing date	2008-07
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	192062-5
ISSN	1527-9995 ; 0090-4295
ISSN (online)	1527-9995
ISSN	0090-4295
DOI	10.1016/j.urology.2007.11.120
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Zs.A 1142: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article: Clinical Challenges and Images in GI. Microvillous inclusion disease.

Amosu, Melinda O / Mousa, Hayat M / Luquette, Mark

Gastroenterology

2007 Volume 132, Issue 4, Page(s) 1225, 1639

MeSH term(s)	Biopsy ; Diagnosis, Differential ; Diarrhea/diagnosis ; Diarrhea/etiology ; Endoscopy, Gastrointestinal ; Enterocytes/ultrastructure ; Humans ; Infant ; Intestinal Diseases/complications ; Intestinal Diseases/diagnosis ; Intestine, Small/pathology ; Male ; Microvilli/ultrastructure
Language	English
Publishing date	2007-04
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	80112-4
ISSN	1528-0012 ; 0016-5085
ISSN (online)	1528-0012
ISSN	0016-5085
DOI	10.1053/j.gastro.2007.02.062
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