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Article: Dealing With Brain MRI Findings in Pediatric Patients With Endocrinological Conditions: Less Is More?

Baldo, Francesco / Marin, Maura / Murru, Flora Maria / Barbi, Egidio / Tornese, Gianluca

2022 Volume 12, Page(s) 780763

Abstract: Neuroimaging is a key tool in the diagnostic process of various clinical conditions, especially in pediatric endocrinology. Thanks to continuous and remarkable technological developments, magnetic resonance imaging can precisely characterize numerous ... ...

Abstract	Neuroimaging is a key tool in the diagnostic process of various clinical conditions, especially in pediatric endocrinology. Thanks to continuous and remarkable technological developments, magnetic resonance imaging can precisely characterize numerous structural brain anomalies, including the pituitary gland and hypothalamus. Sometimes the use of radiological exams might become excessive and even disproportionate to the patients' medical needs, especially regarding the incidental findings, the so-called "incidentalomas". This unclarity is due to the absence of well-defined pediatric guidelines for managing and following these radiological findings. We review and summarize some indications on how to, and even if to, monitor these anomalies over time to avoid unnecessary, expensive, and time-consuming investigations and to encourage a more appropriate follow-up of brain MRI anomalies in the pediatric population with endocrinological conditions.
MeSH term(s)	Aftercare ; Brain/diagnostic imaging ; Child ; Child, Preschool ; Growth Disorders/diagnosis ; Human Growth Hormone/deficiency ; Humans ; Incidental Findings ; Magnetic Resonance Imaging ; Neuroimaging ; Practice Guidelines as Topic ; Puberty, Precocious/diagnosis ; Watchful Waiting
Chemical Substances	Human Growth Hormone (12629-01-5)
Language	English
Publishing date	2022-01-12
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2592084-4
ISSN	1664-2392
ISSN	1664-2392
DOI	10.3389/fendo.2021.780763
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Article ; Online: Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature.

Fantasia, Ilaria / Faletra, Flavio / Bussani, Rossana / Murru, Flora Maria / Ottaviani Giammarco, Chiara / Travan, Laura / Sirchia, Fabio / Feresin, Agnese / Stampalija, Tamara

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

2023 Volume 36, Issue 2, Page(s) 2232075

Abstract: Objective: The septum pellucidum is a virtual cavity located at the anterior part of the brain midline, which only in fetal life has a certain amount of fluid inside. The presence of an obliterated cavum septi pellucidi (oCSP) in the prenatal period is ... ...

Abstract	Objective: The septum pellucidum is a virtual cavity located at the anterior part of the brain midline, which only in fetal life has a certain amount of fluid inside. The presence of an obliterated cavum septi pellucidi (oCSP) in the prenatal period is poorly described in the literature but, nevertheless, it constitutes an important clinical dilemma for the fetal medicine specialist in terms of significance and prognosis. Moreover, its occurrence is increasing maybe because of the widespread of high-resolution ultrasound machine. The aim of this work is to review the available literature regarding the oCSP along with the description of a case-report of oCSP with an unexpected outcome. Methods: A search of the literature through Pubmed was performed up to December 2022 with the aim to identify all cases of oCSP previously described, using as keywords "cavum septi pellucidi," "abnormal cavum septi pellucidi," "fetus," and "septum pellucidum." Along with the narrative review, we describe a case-report of oCSP. Results: A 39 years old woman was diagnosed with a nuchal translucency between the 95° and 99° centile in the first trimester and an oCSP and "hookshaped" gallbladder at 20 weeks. Left polymicrogyria was found at fetal magnetic resonance imaging (MRI). Standard karyotype and chromosomal microarray analysis (CMA) were normal. After birth, the newborn presented signs of severe acidosis, untreatable seizures and multiorgan failure leading to death. A targeted gene analysis of the epilepsy panel revealed the presence of a Conclusions: This case-report and review of the literature shows that oCSP is a clinical entity poorly described so far and that, despite the generally good prognosis, it requires caution in counseling. The diagnostic work-up should include neurosonography while fetal MRI may be always indicated for non-isolated cases only, depending on local facilities. Targeted gene analysis or whole exome sequencing may be indicated for non-isolated cases.
MeSH term(s)	Pregnancy ; Infant, Newborn ; Female ; Humans ; Adult ; Septum Pellucidum/diagnostic imaging ; Brain ; Epilepsy ; Fetus ; Prenatal Care ; Magnetic Resonance Imaging
Language	English
Publishing date	2023-07-06
Publishing country	England
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	2077261-0
ISSN	1476-4954 ; 1057-0802 ; 1476-7058
ISSN (online)	1476-4954
ISSN	1057-0802 ; 1476-7058
DOI	10.1080/14767058.2023.2232075
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Article ; Online: Neck stiffness and bone osteolytic lesion in a 3-years old child: a case report.

Carraro, Carolina / Rabusin, Marco / Murru, Flora Maria / Ammar, Lydie / Barbi, Egidio / Amaddeo, Alessandro / Cozzi, Giorgio

Italian journal of pediatrics

2023 Volume 49, Issue 1, Page(s) 132

Abstract: Background: Neuroblastoma is the most frequent extracranial solid tumor occurring in childhood, representing approximately 28% of all cancers diagnosed in infants. Signs and symptoms of neuroblastoma vary with the site of development of the tumor and ... ...

Abstract	Background: Neuroblastoma is the most frequent extracranial solid tumor occurring in childhood, representing approximately 28% of all cancers diagnosed in infants. Signs and symptoms of neuroblastoma vary with the site of development of the tumor and can mimic other diseases due to its extreme clinical variability. However, torticollis is not reported in the medical literature as a leading symptom of neuroblastoma. Case presentation: Here we report the case of a 3 years-old girl with fever and neck stiffness. Blood tests revealed a mild anemia and a rise in inflammatory markers. CT-scan showed a solid, heterogeneous, predominantly hypodense surrenal mass with eccentric calcification and extensive inhomogeneity of the vertebral metamers. Blood tests revealed raised serum levels of Neuron-Specific Enolase. At the 24-hours urine collection urinary catecholamines were greatly increased. A course of chemotherapy for neuroblastoma was promptly started with immediate clinical improvement. Conclusions: This case shows that the presence of torticollis could be a chief complaint of neuroblastoma. To our knowledge, neuroblastoma is not mentioned among life-threatening underlying conditions of torticollis in most recent literature reviews.
MeSH term(s)	Infant ; Female ; Humans ; Child ; Child, Preschool ; Torticollis/diagnostic imaging ; Torticollis/etiology ; Bone Diseases ; Tomography, X-Ray Computed ; Neuroblastoma/diagnosis ; Neuroblastoma/diagnostic imaging ; Catecholamines
Chemical Substances	Catecholamines
Language	English
Publishing date	2023-09-29
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	2088556-8
ISSN	1824-7288 ; 1720-8424
ISSN (online)	1824-7288
ISSN	1720-8424
DOI	10.1186/s13052-023-01534-4
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Article ; Online: A Toddler with Sudden Scrotal Swelling.

Trombetta, Andrea / Taddio, Andrea / Murru, Flora Maria / Berti, Irene

The Journal of pediatrics

2020 Volume 223, Page(s) 220–221

MeSH term(s)	Child, Preschool ; Edema/diagnosis ; Genital Diseases, Male/diagnosis ; Humans ; Male ; Scrotum/diagnostic imaging ; Ultrasonography, Doppler
Language	English
Publishing date	2020-07-25
Publishing country	United States
Document type	Case Reports
ZDB-ID	3102-1
ISSN	1097-6833 ; 0022-3476
ISSN (online)	1097-6833
ISSN	0022-3476
DOI	10.1016/j.jpeds.2020.04.047
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Article ; Online: Adolescent Female with Severe Thigh Pain after Doing Splits.

Trombetta, Andrea / Barbi, Egidio / Murru, Flora Maria / Cozzi, Giorgio

The Journal of pediatrics

2020 Volume 225, Page(s) 274

MeSH term(s)	Adolescent ; Conservative Treatment ; Female ; Fractures, Avulsion/diagnostic imaging ; Fractures, Avulsion/etiology ; Gymnastics/injuries ; Humans ; Thigh/injuries
Language	English
Publishing date	2020-07-03
Publishing country	United States
Document type	Case Reports
ZDB-ID	3102-1
ISSN	1097-6833 ; 0022-3476
ISSN (online)	1097-6833
ISSN	0022-3476
DOI	10.1016/j.jpeds.2020.06.087
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Article: Complex regional pain syndrome of the foot in a girl with post-SARS-CoV-2 chilblains.

Peri, Francesca / Della Paolera, Sara / Conversano, Ester / Murru, Flora Maria / Tommasini, Alberto / Taddio, Andrea

Clinical and experimental rheumatology

2021 Volume 40, Issue 5, Page(s) 1056–1057

MeSH term(s)	COVID-19/complications ; Chilblains/diagnosis ; Chilblains/etiology ; Complex Regional Pain Syndromes ; Female ; Humans ; SARS-CoV-2 ; Skin
Language	English
Publishing date	2021-12-07
Publishing country	Italy
Document type	Letter
ZDB-ID	605886-3
ISSN	1593-098X ; 0392-856X
ISSN (online)	1593-098X
ISSN	0392-856X
DOI	10.55563/clinexprheumatol/xfu3g0
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Article ; Online: A 16-year-old boy with a headache, back neck pain and positional vertigo.

Bevacqua, Martina / Abbracciavento, Giuseppe / Murru, Flora Maria / Barbi, Egidio

Archives of disease in childhood. Education and practice edition

2019 Volume 106, Issue 1, Page(s) 44–46

MeSH term(s)	Adolescent ; Headache/diagnosis ; Headache/etiology ; Humans ; Magnetic Resonance Imaging ; Male ; Neck Pain/diagnosis ; Neck Pain/etiology ; Vertigo/diagnosis ; Vertigo/etiology
Language	English
Publishing date	2019-07-18
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	2148818-6
ISSN	1743-0593 ; 1743-0585
ISSN (online)	1743-0593
ISSN	1743-0585
DOI	10.1136/archdischild-2019-316831
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Article ; Online: Myositis ossificans mimicking sarcoma: a not so rare bioptic diagnostic pitfall.

Cortellazzo Wiel, Luisa / Trevisan, Matteo / Murru, Flora Maria / Rabusin, Marco / Barbi, Egidio

Italian journal of pediatrics

2020 Volume 46, Issue 1, Page(s) 110

Abstract: Background: Myositis ossificans (MO) is a heterotopic bone formation in soft tissues, usually caused by traumas or neuropathies. Although the aetiology remains unclear, MO is supposed to be an osteoblast metaplasia with a benign and self-limiting course. ...

Abstract	Background: Myositis ossificans (MO) is a heterotopic bone formation in soft tissues, usually caused by traumas or neuropathies. Although the aetiology remains unclear, MO is supposed to be an osteoblast metaplasia with a benign and self-limiting course. Remarkably, at onset MO can be clinically, radiologically and histologically indistinguishable to soft tissue malignancies, especially in cases lacking a history of trauma, leading to misdiagnoses and improper treatments. Case presentation: A 13-year-old male was referred to the Oncology Department because of a previous diagnosis of osteogenic sarcoma of his left thigh. The diagnosis was made upon a history of isolated thigh pain in the absence of traumas, the evidence of a contrast-enhanced soft tissue mass on magnetic resonance imaging and the histological findings of atypical nuclei and mitotic figures. The lesion was eventually radiologically unchanged after five cycles of chemotherapy; thus, the child was referred for radical surgery. At admission, endorsing the child well-appearance, together with the evidence of a reduced calcified lesion on a further magnetic resonance, a clinical suspicion of myositis ossificans was raised. Hence, the excisional biopsy confirmed the pathognomonic zonal pattern of myositis ossificans. Conclusions: This case highlights some frequent diagnostic pitfalls facing myositis ossificans. A lacking history of traumas, along with a too early radiological and histological evaluation can lead to a misdiagnosis of soft tissue malignancies. Even in the absence of a clear history of trauma, a painful soft tissue swelling with a benign clinical course should raise the suspicion of myositis ossificans.
MeSH term(s)	Adolescent ; Diagnosis, Differential ; Diagnostic Errors ; Humans ; Magnetic Resonance Imaging ; Male ; Myositis Ossificans/diagnostic imaging ; Myositis Ossificans/pathology ; Myositis Ossificans/surgery ; Sarcoma/diagnosis ; Soft Tissue Neoplasms/diagnosis
Language	English
Publishing date	2020-07-31
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	2088556-8
ISSN	1824-7288 ; 1720-8424
ISSN (online)	1824-7288
ISSN	1720-8424
DOI	10.1186/s13052-020-00874-9
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Article ; Online: Unilateral leg swelling in a newborn.

Cortellazzo Wiel, Luisa / Berti, Irene / Starc, Meta / Murru, Flora Maria / Barbi, Egidio / Risso, Francesco Maria

Archives of disease in childhood. Education and practice edition

2020 Volume 107, Issue 4, Page(s) 271–273

Abstract: A female neonate was born with asymmetric lower limbs, the right leg appearing enlarged, with thickened, reddish-purple skin and ectasic superficial reticulum (figure 1A,B). Limb pulses were present and symmetrical. The girl's family history and prenatal ...

Abstract	A female neonate was born with asymmetric lower limbs, the right leg appearing enlarged, with thickened, reddish-purple skin and ectasic superficial reticulum (figure 1A,B). Limb pulses were present and symmetrical. The girl's family history and prenatal scans were unremarkable. Laboratory findings were within the normal range, except for a mild thrombocytopenia (90 000/μL), which spontaneously resolved during the next few days. A leg X-ray and the Doppler analysis ruled out the presence of calcifications and venous varices, respectively. Ultrasound showed significant skin thickening, with marked dermal hypertrophy and hyperechogenicity. Magnetic resonance showed circumferential thickening of the derma, with mild hypertrophy of some perforating vessels (figure 2). A biopsy of the right thigh showed capillary malformations on histology.
MeSH term(s)	Capillaries/abnormalities ; Female ; Humans ; Hypertrophy/etiology ; Infant, Newborn ; Klippel-Trenaunay-Weber Syndrome/complications ; Klippel-Trenaunay-Weber Syndrome/diagnosis ; Klippel-Trenaunay-Weber Syndrome/pathology ; Leg/pathology ; Pregnancy ; Vascular Malformations/pathology
Language	English
Publishing date	2020-11-18
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	2148818-6
ISSN	1743-0593 ; 1743-0585
ISSN (online)	1743-0593
ISSN	1743-0585
DOI	10.1136/archdischild-2020-320450
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Article ; Online: A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNA

Ghirigato, Elena / Terenzi, Francesca / Baglivo, Mirko / Zanetti, Nadia / Baldo, Francesco / Murru, Flora Maria / Bobbo, Marco / Barbi, Egidio / Zeviani, Massimo / Bruno, Irene / Lamantea, Eleonora

Neuromuscular disorders : NMD

2023 Volume 33, Issue 12, Page(s) 972–977

Abstract: A 16-year-old boy was evaluated for a history of exercise-induced fatigability associated with nausea even after minimal effort, lower limbs muscle hypotrophy, and swelling of the masseter muscles after chewing. Laboratory tests were remarkable for ... ...

Abstract	A 16-year-old boy was evaluated for a history of exercise-induced fatigability associated with nausea even after minimal effort, lower limbs muscle hypotrophy, and swelling of the masseter muscles after chewing. Laboratory tests were remarkable for hyperlactatemia and metabolic acidosis after short physical activity. The muscle biopsy showed non-specific mitochondrial alterations and an increase in intrafibral lipids. Biochemical analysis showed reduced activity of the respiratory chain complexes. Mitochondrial DNA sequencing revealed the presence of a homoplasmic variant m.15992A>T in the MT-TP gene, coding for the mt-tRNA
MeSH term(s)	Male ; Humans ; Adolescent ; RNA, Transfer, Pro ; Muscle Fatigue ; Mastication ; Maternal Inheritance ; Mutation ; RNA, Transfer/genetics ; DNA, Mitochondrial/genetics ; Muscles
Chemical Substances	RNA, Transfer, Pro ; RNA, Transfer (9014-25-9) ; DNA, Mitochondrial
Language	English
Publishing date	2023-11-04
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	1077681-3
ISSN	1873-2364 ; 0960-8966
ISSN (online)	1873-2364
ISSN	0960-8966
DOI	10.1016/j.nmd.2023.11.001
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