The lost chILD: a case report of delayed diagnosis of surfactant protein C deficiency in a 15-year-old African male
Abstract Background Childhood interstitial lung disease (chILD) encompasses a heterogeneous group of rare disorders characterized by respiratory distress, hypoxemia, exercise intolerance, and distinctive radiological findings. Despite the variable age of onset, these conditions often present with ov...
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2025-07-01
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| Series: | Italian Journal of Pediatrics |
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| Online Access: | https://doi.org/10.1186/s13052-025-02018-3 |
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| author | Nadia Faelli Federica Chironi Beatrice Andrenacci Maria Francesca Patria Stefano Ferrero Irene Borzani Costanza Pucci Daniela Civeriati Mara Lelii Barbara Madini Alessia Rocchi Valeria Daccò |
| author_facet | Nadia Faelli Federica Chironi Beatrice Andrenacci Maria Francesca Patria Stefano Ferrero Irene Borzani Costanza Pucci Daniela Civeriati Mara Lelii Barbara Madini Alessia Rocchi Valeria Daccò |
| author_sort | Nadia Faelli |
| collection | DOAJ |
| description | Abstract Background Childhood interstitial lung disease (chILD) encompasses a heterogeneous group of rare disorders characterized by respiratory distress, hypoxemia, exercise intolerance, and distinctive radiological findings. Despite the variable age of onset, these conditions often present with overlapping symptoms and variable progression, even with identical genetic mutations. Surfactant protein deficiencies fall under the category of chILD, with Surfactant Protein-C (SP-C) deficiency posing significant diagnostic challenges due to its rarity and the variable severity of clinical presentation. Case presentation We present the case of a 15-year-old male from Senegal who recently arrived in Italy, presenting with severe respiratory distress and hypoxemia. The patient, born full-term, had a long history of chronic cough, recurrent respiratory distress, and poor growth since early infancy. Upon hospitalization, he tested positive for SARS-CoV-2 and exhibited signs of chronic respiratory failure and severe malnutrition. An extensive diagnostic work-up, including a chest CT scan, revealed small cystic-like air spaces and diffuse ground-glass opacities. Whole-exome sequencing confirmed the diagnosis of SP-C deficiency by identifying a heterozygous missense mutation (c.218t>C, Ile73Thr) in the third exon of the SFTPC gene. Treatment with steroids, azithromycin and hydroxychloroquine was initiated. Despite pharmacological treatments, the patient remained oxygen dependent due to the severity of this condition and required long-term bilevel non-invasive ventilatory support. Conclusions This case provides insight into the natural course of untreated child, specifically SP-C deficiency, enhancing our understanding of its manifestations and progression. The lack of standardized treatments underscores the critical need for increased awareness among physicians of this rare but potentially life-threatening condition, enabling early diagnosis and timely therapeutic interventions. |
| format | Article |
| id | doaj-art-e3a12e8746354b419f699531f1a04d73 |
| institution | Kabale University |
| issn | 1824-7288 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Italian Journal of Pediatrics |
| spelling | doaj-art-e3a12e8746354b419f699531f1a04d732025-08-20T03:42:56ZengBMCItalian Journal of Pediatrics1824-72882025-07-015111710.1186/s13052-025-02018-3The lost chILD: a case report of delayed diagnosis of surfactant protein C deficiency in a 15-year-old African maleNadia Faelli0Federica Chironi1Beatrice Andrenacci2Maria Francesca Patria3Stefano Ferrero4Irene Borzani5Costanza Pucci6Daniela Civeriati7Mara Lelii8Barbara Madini9Alessia Rocchi10Valeria Daccò11Department of Pediatrics, Cystic Fibrosis Center, Fondazione IRCCS Ca’ Granda Ospedale Maggiore PoliclinicoUniversità degli Studi di MilanoPediatric Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore PoliclinicoPediatric Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore PoliclinicoPathology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore PoliclinicoPediatric Radiology Unit, Fondazione IRCCS Ca’ Granda - Ospedale Maggiore PoliclinicoUniversità degli Studi di MilanoUniversità degli Studi di MilanoPediatric Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore PoliclinicoPediatric Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore PoliclinicoPediatric Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore PoliclinicoDepartment of Pediatrics, Cystic Fibrosis Center, Fondazione IRCCS Ca’ Granda Ospedale Maggiore PoliclinicoAbstract Background Childhood interstitial lung disease (chILD) encompasses a heterogeneous group of rare disorders characterized by respiratory distress, hypoxemia, exercise intolerance, and distinctive radiological findings. Despite the variable age of onset, these conditions often present with overlapping symptoms and variable progression, even with identical genetic mutations. Surfactant protein deficiencies fall under the category of chILD, with Surfactant Protein-C (SP-C) deficiency posing significant diagnostic challenges due to its rarity and the variable severity of clinical presentation. Case presentation We present the case of a 15-year-old male from Senegal who recently arrived in Italy, presenting with severe respiratory distress and hypoxemia. The patient, born full-term, had a long history of chronic cough, recurrent respiratory distress, and poor growth since early infancy. Upon hospitalization, he tested positive for SARS-CoV-2 and exhibited signs of chronic respiratory failure and severe malnutrition. An extensive diagnostic work-up, including a chest CT scan, revealed small cystic-like air spaces and diffuse ground-glass opacities. Whole-exome sequencing confirmed the diagnosis of SP-C deficiency by identifying a heterozygous missense mutation (c.218t>C, Ile73Thr) in the third exon of the SFTPC gene. Treatment with steroids, azithromycin and hydroxychloroquine was initiated. Despite pharmacological treatments, the patient remained oxygen dependent due to the severity of this condition and required long-term bilevel non-invasive ventilatory support. Conclusions This case provides insight into the natural course of untreated child, specifically SP-C deficiency, enhancing our understanding of its manifestations and progression. The lack of standardized treatments underscores the critical need for increased awareness among physicians of this rare but potentially life-threatening condition, enabling early diagnosis and timely therapeutic interventions.https://doi.org/10.1186/s13052-025-02018-3Childhood interstitial lung diseaseChronic respiratory failurePediatricsSurfactant protein deficiencyCase report |
| spellingShingle | Nadia Faelli Federica Chironi Beatrice Andrenacci Maria Francesca Patria Stefano Ferrero Irene Borzani Costanza Pucci Daniela Civeriati Mara Lelii Barbara Madini Alessia Rocchi Valeria Daccò The lost chILD: a case report of delayed diagnosis of surfactant protein C deficiency in a 15-year-old African male Italian Journal of Pediatrics Childhood interstitial lung disease Chronic respiratory failure Pediatrics Surfactant protein deficiency Case report |
| title | The lost chILD: a case report of delayed diagnosis of surfactant protein C deficiency in a 15-year-old African male |
| title_full | The lost chILD: a case report of delayed diagnosis of surfactant protein C deficiency in a 15-year-old African male |
| title_fullStr | The lost chILD: a case report of delayed diagnosis of surfactant protein C deficiency in a 15-year-old African male |
| title_full_unstemmed | The lost chILD: a case report of delayed diagnosis of surfactant protein C deficiency in a 15-year-old African male |
| title_short | The lost chILD: a case report of delayed diagnosis of surfactant protein C deficiency in a 15-year-old African male |
| title_sort | lost child a case report of delayed diagnosis of surfactant protein c deficiency in a 15 year old african male |
| topic | Childhood interstitial lung disease Chronic respiratory failure Pediatrics Surfactant protein deficiency Case report |
| url | https://doi.org/10.1186/s13052-025-02018-3 |
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