Retraction: Unicentric Castleman Disease With Systemic Symptoms: A Rare Case From Family Practice.

[This retracts the article DOI: 10.7759/cureus.21132.].

The clinical features of OSTM1-associated malignant infantile osteopetrosis: A retrospective, single-center experience over one decade.

Mutation in OSTM1 give rise to the rarest and most lethal subtype of malignant infantile osteopetrosis (MIOP), and an improved understanding of OSTM1-associated MIOP would help with informed decision-making regarding symptom management and early palliative care referral. This retrospective study describes the clinical and laboratory features of patients with a genetic diagnosis of OSTM1 MIOP made between January 2011 and December 2021 in the Department of Pediatrics, Al-Adan Hospital, Kuwait. Twenty-two children had confirmed homozygous deletion in OSTM1 (13 females, nine males). Consanguinity was reported in almost all parents. 72.7% were diagnosed before the age of two months, most commonly incidentally with a high clinical suspicion. All 22 patients developed upper respiratory symptoms, hepatosplenomegaly, poor feeding, and had severe developmental delay. 80% of patients developed pain and/or irritability, and 40.9% were diagnosed with primary seizures. Bone fractures developed in 27% of patients, most likely iatrogenic, and some patients had hernia and gum abnormalities. The mean survival was 10.9 months. The clinical presentation, symptomatology, and mortality of our cohort were compared with other cases of OSTM1 MIOP identified through a comperhensive search of the PubMed database. The findings conclude that OSTM1 MIOP is a multi-systemic disease with distinct clinical features, of which neurological complications are the most severe and include nociplastic pain and irritability. Although orthopedic complications influence the trajectory of most patients with other forms of osteopetrosis, OSTM1 MIOP is driven by its neurological complications. Hence, OSTM1 should be regarded as a neurodegenerative disease with osteopetrosis as a comorbidity that warrants early palliative care referral.

Unicentric Castleman Disease With Systemic Symptoms: A Rare Case From Family Practice.

Palpable lymphadenopathy is very common in children. The vast majority of cases are due to benign conditions and self-limiting diseases. Careful clinical evaluation, with thorough history taking and make a comprehensive physical examination, is essential to avoid unnecessary invasive procedures and not to misdiagnose possible serious underlying conditions. We report the case of a 9-year-old child with a lump in the right axilla that was first noticed with a swelling two months ago. The lump was not painful but its size has been gradually increasing. The symptom was associated with night sweats. However, there was no history of cough, fever, or weight loss. The child had no history of animal contact or insect bites. No recent travel or history of contact with any sick person was reported. His vaccination schedule was up-to-date. Upon examination, the patient had a smooth non-tender swelling in the right axilla. It measured around 4 x 4 cm. The overlying skin was normal with no erythema or ulceration. The swelling was mobile and was not adherent to the overlying skin. Laboratory investigation showed mild anemia, thrombocytosis, and elevated C-reactive protein level. An ultrasound examination demonstrated a well-circumscribed enlarged lymph node, measuring 3.4 cm in short axis, with an increased blood flow on color doppler. Biopsy findings showed proliferation of the follicular lymphoid tissues that were centered around penetrative vessels giving the appearance of "onion skin" in keeping with Castleman disease. Complete surgical resection of the lymph node was performed and resulted in the resolution of the systemic symptoms. Castleman disease is a rare lymphoproliferative disorder with shared histopathological features. Unicentric Castleman disease usually presents with isolated asymptomatic lymphadenopathy. However, the present case demonstrated that patients with unicentric Castleman disease may exhibit systemic constitutional symptoms similar to that of the multicentric subtype.