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270 Possible Causes for Cafe-Au-Lait Spots, Developmental Delay, Pallor

  • Tuberous Sclerosis

    Additional skin lesions may also develop, including cafe-au-lait spots; fibromas (benign, fibrous nodules) arising around or beneath the nails; or shagreen patches (rough,[] In the following months the patient developed clinically a typical neurological phenotype of LND and TSC with seizures, severe dystonia and developmental delay.[] These are known as cafe-au-lait spots. A child may also have skin tumors that are not cancer (benign). These are called neurofibromas.[]

  • Ataxia Telangiectasia

    Cogan’s oculomotor apraxia is generally an isolated problem, or may be associated with broader developmental delay.[] An otherwise seemingly normal girl, who had developed limping at the age of 11 months old, referred to Namazi Hospital, Shiraz, Iran, due to pallor and latitude at the age[] The management of the ataxia itself and developmental delay is outside the scope of the article.[]

  • Russell-Silver Syndrome

    […] extremely short stature and body and facial asymmetry, excessive sweating, a small triangular face which makes the skull look large by comparison, inward curved fingers, cafe-au-lait[] At follow-up, five of the 15 patients exhibited late catch-up growth and had normal height, six had developmental delays or mental retardation, and asymmetry was present in[] Nocturnal sweating was the commonest symptom (23.96%), followed by irritability (11.46%), tantrums (7.29%), pallor and shakiness (3.13%).[]

  • Noonan Syndrome

    In addition, LEOPARD syndrome is confused with Neurofibromatosis Type 1 due to the presence of cafe-au-lait spots.[] This degree of developmental delay was atypical for an individual with Noonan syndrome, raising concerns for a chromosomal abnormality.[] Pallor, fatigue, weakness, fevers, and a dry cough are common symptoms of JMML. Pallor is specifically described as an abnormal paleness of the skin.[]

  • Ring Chromosome 15

    CONCLUSION: Ring chromosome 15 syndromes should be considered in a case having short stature with cafe-au-lait spots.[] A 5-year-old boy with Silver-Russell-like phenotype and developmental delay was found to have a ring chromosome 15.[] These symptoms are related to pancytopenia and include infections, fatigue, and hematologic manifestations such as hemorrhage of mucosal membranes, pallor, menorrhagia, ecchymoses[]

  • Mucopolysaccharidosis 2

    delay, and intellectual disability.[] He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay.[] In addition to developing somatic symptoms, patients having the neuronopathic form of the disease also display developmental delay and cognitive impairment in early childhood[]

  • Ring Chromosome 7

    Common clinical manifestations in r(7) are: growth delay, microcephaly, and dermato- logical abnormalities such as dark pigmented naevi and ‘‘cafe -au-lait’’ spots.[] A ring chromosome 7 was found in a 19-month-old girl with microcephaly, growth and developmental delay, multiple angiomas, and partial sacral agenesis.[] These symptoms are related to pancytopenia and include infections, fatigue, and hematologic manifestations such as hemorrhage of mucosal membranes, pallor, menorrhagia, ecchymoses[]

  • Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia

    […] cardiac, cardiac malformation, developmental, genetic, neoplastic, neurological Phenotypes Aortic valve stenosis ; Autosomal dominant inheritance ; Bicuspid aortic valve ; Cafe-au-lait[] Clinical features are highly variable, including facial dysmorphism, short neck, developmental delay, hyperextensible joints and thorax abnormalities with widely spaced nipples[] […] neurofibromatosis 1 and deletion of NF1 gene Due to stem cell defect causing deranged hematopoiesis Varied clinical presentation may include failure to thrive, malaise, fever, bleeding, pallor[]

  • Congenital Aplastic Anemia

    […] anemia Cause is chromosome breakage and defective repair Autosome recessive, few X-linked recessive Pancytopenia is seen first decade of life Congenital abnormalities – cafe-au-lait[] All developmental milestones were delayed. Her younger sibling (sister) had similar complaints, two other siblings were normal.[] Low counts of red blood cells bring about anemia and cause fatigue, weakness and pallor.[]

  • Neurofibromatosis Type 1

    Von Recklinghausen's disease or neurofibromatosis 1 is an autosomal dominant disorder with multiple neurofibromas and schwannomas, along with cafe au lait spots and axillary[] delay Optic glioma Plexiform neurofibroma Childhood: Neurofibromas Freckling patterns Learning disabilities Scoliosis Hypertension Adolescence: Worsening of existing condition[] Physical findings include visual loss, loss of color vision, an afferent pupillary defect, and optic nerve pallor or atrophy.[]

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