Shapiro syndrome and periodic hypothermia have been reported approximately fifty times in the literature. Shapiro syndrome is defined as the constellation of periodic hypothermia and hyperhidrosis along with agenesis of the corpus callosum by Shapiro et al. in 1969. Periodic hypothermia is a more broad diagnosis with a number of proposed mechanisms; it occurs in patients without structural brai...

AML relapsing as ALL has rarely been reported. We describe the case of a 62-yr-old man who was diagnosed with erythroleukemia with a complex karyotype and achieved complete hematologic and cytogenetic remission after induction chemotherapy. However, 4 months after the initial diagnosis, he showed relapse with blasts showing a different morphology and immunophenotype and was diagnosed with precu...

Deficiency of Vitamin B12 can have many neurologic sequelae including periperhal neuropathy, visual disturbances, mood and memory changes and subacute combined degeneration (SCD) of the spinal cord1. Macrocytic anemia is also a common finding of B12 deficiency allowing the clinician to arrive at a diagnosis, however neurologic symptoms can be present even in the absence of hematologic changes. ...

Thrombosis is one of the major complications of polycythemia vera. Seventeen patients with polycythemia vera in good hematologic control were evaluated for abnormalities of the coagulation system. Activation of the intrinsic coagulation cascade was suggested by low levels of factor XII, prekallikrein, and kallikrein inhibitors in 12 of 17 patients. The group also demonstrated a significant inc...

Twenty patients with hematologic malignancies with 12p abnormalities were investigated by fluorescence in situ hybridization (FISH) using probes mapped to specific regions in 12p. The initial analysis using the YAC 964~10 (D12S736) revealed that all four cases with cytogenetically identified del(l2p) had lost one copy of this YAC and that submicroscopic deletions had occurred in 10 of the 16 ne...

To demonstrate the differences of clinical features and hematologic abnormalities between dengue fever (DF) and dengue hemorrhagic fever (DHF), 359 pediatric patients admitted St. Luke's Medical Center in Quezon City, between 1999 and 2001 in Metro Manila, and adjoining provinces the Philippines, with a laboratory-confirmed dengue virus infection were evaluated. One third of the patients had DH...

The majority of the information on the effects of in utero exposure to chemotherapy has been derived from retrospective case reports and series. Overviews of the available data have concluded that the timing of chemotherapy exposure (first trimester versus second and third trimesters) as well as the chemotherapeutic agent or agents used affect the risk of spontaneous abortion and miscarriage as...

Deficiency of Vitamin B12 can have many neurologic sequelae including periperhal neuropathy, visual disturbances, mood and memory changes and subacute combined degeneration (SCD) of the spinal cord1. Macrocytic anemia is also a common finding of B12 deficiency allowing the clinician to arrive at a diagnosis, however neurologic symptoms can be present even in the absence of hematologic changes. ...

Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by pancreatic exocrine insufficiency and bone marrow failure, often associated with neurodevelopmental and skeletal abnormalities. Mutations in the SBDS gene have been shown to cause SDS. The purpose of this document is to provide draft guidelines for diagnosis, evaluation of organ and system abnormalities, and tr...

INTRODUCTION von Voss-Cherstvoy syndrome is a part of a group of syndromes with radial and hematologic abnormalities, and until now approximately ten cases have been reported in the literature. This syndrome is characterized by a triad of radial ray defects, occipital encephalocele, and urogenital abnormalities. CASE PRESENTATION We report a neonate from Indian ethnicity who was diagnosed wit...