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Case Reports
. 2019 Nov 25:38:e2018146.
doi: 10.1590/1984-0462/2020/38/2018146. eCollection 2020.

NEUROENDOCRINE TUMOR IN A CHILD WITH COMMON VARIABLE IMMUNODEFICIENCY

[Article in English, Portuguese]
Pedro de Souza Lucarelli Antunes  1 , Heloísa Gabriel Tersariol  1 , Mainã Marques Belém Veiga  1 , Maria Conceição Santos de Menezes  2 , Fabíola Del Carlo Bernardi  1 , Wilma Carvalho Neves Forte  1
Affiliations
Case Reports

NEUROENDOCRINE TUMOR IN A CHILD WITH COMMON VARIABLE IMMUNODEFICIENCY

[Article in English, Portuguese]
Pedro de Souza Lucarelli Antunes et al. Rev Paul Pediatr. .

Abstract
in English, Portuguese

Objective: To report a case of a child with primary immunodeficiency who at eight years developed digestive symptoms, culminating with the diagnosis of a neuroendocrine tumor at ten years of age.

Case description: One-year-old boy began to present recurrent pneumonias in different pulmonary lobes. At four years of age, an immunological investigation showed a decrease in IgG and IgA serum levels. After the exclusion of other causes of hypogammaglobinemia, he was diagnosed with a Common Variable Immunodeficiency and started to receive monthly replacement of human immunoglobulin. The patient evolved well, but at 8 years of age began with epigastrium pain and, at 10 years, chronic persistent diarrhea and weight loss. After investigation, a neuroendocrine tumor was diagnosed, which had a rapid progressive evolution to death.

Comments: Medical literature has highlighted the presence of gastric tumors in adults with Common Variable Immunodeficiency, emphasizing the importance of early diagnosis and the investigation of digestive neoplasms. Up to now there is no description of neuroendocrine tumor in pediatric patients with Common Variable Immunodeficiency. We believe that the hypothesis of digestive neoplasm is important in children with Common Variable Immunodeficiency and with clinical manifestations similar to the case described here in the attempt to improve the prognosis for pediatric patients.

Objetivo:: Relatar um caso de criança portadora de imunodeficiência primária que, aos oito anos, desenvolveu sintomas digestivos, culminando com o diagnóstico de tumor neuroendócrino aos dez anos de idade.

Descrição do caso:: Menino, com um ano de idade, começou a apresentar pneumonias de repetição em diferentes lobos pulmonares. Aos quatro anos, a investigação imunológica mostrou diminuição dos níveis séricos de IgG e IgA. Após exclusão de outras causas de hipogamaglobulinemia, teve diagnóstico de imunodeficiência comum variável, passando a receber reposição mensal de imunoglobulina humana. Evoluiu bem, porém, aos oito anos, começou com epigastralgia e, aos dez anos, diarreia crônica persistente e perda de peso. O quadro culminou com o diagnóstico de tumor neuroendócrino intestinal, de rápida progressão, com óbito do paciente.

Comentários:: A literatura tem chamado a atenção para tumores gástricos em adultos com imunodeficiência comum variável, alertando para a importância do diagnóstico precoce e da pesquisa de neoplasias digestivas. Até o momento, não há descrição de tumor neuroendócrino em pacientes pediátricos portadores de imunodeficiência comum variável. Acredita-se ser importante a hipótese de neoplasia digestiva diante de crianças com imunodeficiência comum variável e com manifestações clínicas semelhantes ao caso descrito, na tentativa de melhorar o prognóstico para pacientes pediátricos.

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Conflict of interest statement

The authors declare no conflict of interests.

Figures

Figure 1
Figure 1. (A) Infiltrating/metastatic neuroendocrine carcinoma characterized by the proliferation of small and intermediate cells with anaplasia, arranged in blocks and cords (Hematoxylin-Eosin, 40x); (B) the presence of necrosis areas (arrows) between neoplastic cell blocks and cords (Hematoxylin-Eosin, 100x); (C) the presence of frequent figures of atypical mitoses (arrows) (Hematoxylin-Eosin, 400x); (D) immunohistochemical expression of pancytokeratin (AE1-AE3, 400x); (E), (F), (G) immunohistochemical expression of neuroendocrine markers (Chromogranin A, Synaptophysin and CD56, 400x, respectively); (H) high proliferation rate to KI67, positive in 80% of neoplastic cells (KI67, 200x).
See this image and copyright information in PMC

References

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