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1.
BMC Pediatr ; 24(1): 327, 2024 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-38773407

RESUMO

INTRODUCTION: Donohue syndrome (DS), also referred to as leprechaunism, is a remarkably uncommon autosomal recessive disorder that primarily affects the endocrine system. Its incidence rate is exceedingly low, with only 1 case reported per 4 million live births. The syndrome is distinguished by a series of characteristic clinical features. CASE PRESENTATION: We present a case of a twenty-month-old male with DS who experienced a range of dysmorphic and clinical features with the involvement of multiple systems. These features include skin hyperpigmentation, hypertrichosis, distinct facial features, abdominal distension, and microcephaly, with the involvement of the endocrine, renal, respiratory, and cardiac systems. CONCLUSION: The primary features of DS involve severe insulin resistance and growth abnormalities, the association with pulmonary hypertension (PHTN) has not been reported before. This finding adds more complexity to the condition. To the best of the author's knowledge, this is the first report for a patient with DS who has PHTN. Further investigation is required since the mechanisms behind the development of PHTN in DS are not entirely understood. Shedding light on this association will contribute to better management strategies and outcomes for affected patients.


Assuntos
Síndrome de Donohue , Hipertensão Pulmonar , Humanos , Masculino , Hipertensão Pulmonar/etiologia , Hipertensão Pulmonar/diagnóstico , Lactente , Síndrome de Donohue/complicações , Síndrome de Donohue/diagnóstico
2.
Surg Neurol Int ; 14: 396, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38053708

RESUMO

Background: Pericallosal tuberculoma, a rare form of intracranial tuberculoma, affects the corpus callosum and results from tuberculosis (TB), a bacterial infection that can cause a myriad of symptoms. Diagnosing this condition can be challenging but can be confirmed through imaging studies and biopsy. Treatment involves a combination of antitubercular medications and surgical removal of the lesion if it is in a critical location or causing significant symptoms. This article describes the surgical management and imaging characteristics approach to a patient with intracranial tuberculoma. Case Description: A 17-year-old female with a history of TB meningitis nine years ago presented with one week of recurrent seizures and mild third nerve palsy, later diagnosed as a tuberculoma of the corpus callosum through radiological imaging and biopsies. A total surgical resection of the lesion was performed using a contralateral interhemispheric frontal parasagittal approach. The patient went under observation and suitable follow-up plans. Conclusion: Surgical management can effectively treat cerebral granulomas and improve neurological deficits in patients with recurring TB. Despite the possibility of complications, the benefits of such measures are highlighted in this case, suggesting that surgical intervention can be a viable option for achieving optimal outcomes in these patients.

3.
Surg Neurol Int ; 14: 415, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38213455

RESUMO

Background: Basal ganglia hemorrhage (BGH) is an intracerebral subtype of hemorrhage located in the caudate nucleus, putamen, globus pallidus, or adjacent structures such as the thalamus or internal capsule. Bilateral involvement of both basal ganglia is exceedingly infrequent. Herein, we report a case of a 2-year-old female who was discovered to have spontaneous bilateral BGH with a unique hemorrhagic extension. Case Description: A 2-year-old female child who presented with a decreased level of consciousness, seizure, and fever was discovered to have bilateral BGH during imaging evaluation that extended from the head of the caudate to involve the putamen, globus pallidus, and anterior limb of the internal capsule. Conclusion: Bilateral BGH is extremely rare, and to the best of our knowledge, this is the first case report in pediatric age groups.

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