INTRODUCTION: Seckel syndrome is a rare case. It belongs to an autosomal recessive disorder. commonly leads osteodysplastic, microcephaly, and dwarfism, which are proportional prenatal onset. Microcephaly, bird-headed-like appearance, mental retardation common dysmorphic in the future. This case report present patient with this will be discussed comprehensively. CASE REPORT: A 9-month-old girl ...

Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 deletion syndrome, conotruncal anomalies face syndrome, CATCH 22, and Sedlacková syndrome have all been attached to the same disorder. Velo-cardio-facial syndrome has an expansive phenotype with more than 180 clinical features...

Chronic myelomonocytic leukaemia is an atypical myeloproliferative disorder with a natural history of progression to acute myeloid leukaemia, a complex and poorly understood response by the bone marrow to stress. Cardiac surgery activates many inflammatory cascades and may precipitate a systemic inflammatory response syndrome. We present a case of undiagnosed chronic myelomonocytic leukaemia wh...

Mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disorder caused by deficiency of arylsulfatase B (ARS-B) enzyme activity. It results in mild to severe multi-organ system failure from accumulation of undigested glycosaminoglycans (GAGs); dermatan sulfate and chondroitin-4-sulfate. We have developed a single-step enzyme assay using a fluorescen...

A growing consensus seems to be emerging that neurocognitive outcomes are poor for patients who have been critically ill with acute respiratory distress syndrome and multiple organ failure. However, intensive care unit delirium, post-traumatic stress disorder, and other outcomes must be considered as potentially confounding factors. Once the uncertainty around the causes of postmorbid cognitive...

Ehlers-Danlos syndrome is a heritable connective tissue disorder with an estimated prevalence of one in 10,000 to 25,000 persons [1]. Using clinical phenotype, biochemical and molecular defects, as well as inheritance patterns, a total of 6 subtypes have been described [2]. Although its hallmark findings include severe joint laxity and hyperextensible skin, this condition is known to affect a v...

SUMMARY – Congenital malformations of the head and neck are a wide and extremely heterogeneous group because this region contains parts of almost all organ systems. These malformations range in their importance and severity from purely cosmetic defects and minor disturbances to lethal anomalies. They can be isolated or occur as a component of a sequence, syndrome or chromosomal disorder. Some o...

BACKGROUND Marfan syndrome (MFS) is the most common inherited disorder of connective tissue affecting multiple organ systems. The most life-threatening and life-shortening complication is aortic dissection. Without surgery, life expectancy of MFS patients is reduced to approximately 32 years. Early identification and appropriate multidisciplinary medical cooperation is essential. CONCLUSION P...

Idiopathic hypereosinophilic syndrome (HES) is a heterogeneous disorder characterized by prolonged eosinophilia without an identifiable cause, ultimately resulting in organ dysfunction. Three major types of neurologic involvement have been well defined in HES; however, to our knowledge, inflammatory pseudotumor (IPT) in association with HES has not been reported. We present a case of IPT of the...

The idiopathic hypereosinophilic syndrome (HES) represents a leukoproliferative disorder, characterized by unexplained prolonged eosinophilia (>6 months) and evidence of specific organ damage. So far, the peripheral neuropathy associated with skin manifestations of HES has not been reported in the dermatologic literature although the incidence of peripheral neuropathy after HES ranges from 6~52...