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A boy with congenital atrichia, ichthyosis follicular, keratitis, cutaneous infections and a huge inguinal hernia, but without deafness is reported. We believe it represents a new case of a rare X-linked recessive syndrome known as ichthyosis follicularis, alopecia, photophobia syndrome (IFAP). The
OBJECTIVE
Determine and compare the clinicopathological findings of cerebral aspergillosis with cerebral candidiasis.
METHODS
The medical records with cerebral aspergillosis and cerebral candidiasis in Ramathibodi Hospital between January 1997 and December 2008 were analyzed. The criterion for the
An autopsy case of chronic mucocutaneous candidiasis (CMCC) is reported here, in which cerebral vasculitis developed in the final stage. A 32-year-old man who had suffered from superficial candidial infection since his childhood was diagnosed as having CMCC. During the past 7 years the patient had
The occurrence of chronic mucocutaneous candidiasis accompanying polyglandular autoimmune syndrome type I is reported in a female aged 13. Apart the candidiasis, since the age of 3, she had convulsions beginning at 6, cataract at 9, teeth abnormalities, and basal ganglia calcifications. Laboratory
Central nervous system involvement in Candida septicaemia is rare and not more than four cases have been published in Brazil. Five new cases of systemic candidiasis with cerebral lesions are reported. All patients (four adults and a child) had serious underlying diseases and were submitted to heavy
OBJECTIVE
To identify potential risk factors associated with Candida infections and compare these risk factors between patients who both died and survived.
METHODS
A group of patients with positive Candida spp. blood cultures admitted to a neonatal intensive care unit (NICU) in Costa Rica between
OBJECTIVE
To report an 8-year-old girl with bilateral progressive visual loss and photophobia secondary to stem cell deficiency as a result of multiple endocrine deficiency.
METHODS
A case report and review of medical literature.
RESULTS
The patient suffered from severe photophobia and decreased
Biotinidase deficiency (BD) is an inborn metabolic disorder inherited in an autosomal recessive manner. Partially due to high consanguinity rates in Turkey, BD incidence is high in Turkey. If left untreated, neurological abnormalities including seizures, hypotonia, sensorineural deafness, alopecia,
OBJECTIVE
To report two sisters with bilateral progressive visual loss and photophobia secondary to stem cell deficiency due to multiple endocrine deficiency.
METHODS
Case reports and review of medical literature.
RESULTS
The younger sister had severe photophobia and decreased visual acuity since
BACKGROUND
Hypoparathyroidism is a rare pediatric endocrine disease, which is caused by low circulating levels of PTH or insensitivity to its action in the target tissues.
OBJECTIVE
To report the clinical and biochemical characteristics and theoutcome of 8 patients with
The problem of intracranial calcifications in children has not been widely discussed in the literature yet. The aim of this study is to emphasise different clinical aspects of intracranial calcifications found in subcortical nuclei and cerebellum in children with disturbed calcium metabolism. We
A 46-year-old man, status post liver transplantation and taking immunosuppressive medications, was admitted after suffering a generalized seizure. Magnetic resonance imaging of the brain revealed two ring-enhancing lesions and treatment was begun for presumed toxoplasmic encephalitis. He was already
BACKGROUND
Largely due to the lack of diagnostic reagents, the prevalence and clinical presentation of cryptococcal meningitis in Tanzania is poorly understood. This in turn is limiting the impact of increased fluconazole availability.
METHODS
We evaluated a cohort of 149 consecutive HIV-infected
In the outpatient clinic of the Institute of Venereology clinical examinations were carried out in 37 patients with HIV infection, who were in a good general condition. In 28 patients peripheral lymphadenopathy was present, with involvement of the lymph nodes in at least two areas besides groins in