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190 Possible Causes for Abnormal Gait, Cafe-Au-Lait Spots, 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,[flybase.org] […] delays), cranial nerves, focal motor/sensory/reflexes abnormalities, cerebellar dysfunction, or gait abnormalities.[emedicine.medscape.com] These are known as cafe-au-lait spots. A child may also have skin tumors that are not cancer (benign). These are called neurofibromas.[urmc.rochester.edu]

  • Ataxia Telangiectasia

    The records of all patients seen at the Ataxia-Telangiectasia Clinical Center from July 1, 1995 to April 1, 1997 were reviewed to determine age of onset of gait abnormality[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov] A baby girl, normal at birth, manifested abnormalities of gait and persistent watery nasal discharge before the age of 2 years.[jamanetwork.com]

  • Ankylosing Spondylitis

    Clinical: Cafe-au-lait skin pigmentations; fibroma molluscum; lipomas and sebaceous adenomas; schwannomas; growth abnormalities; spontaneous fractures; facial hemihypertrophy[dentisty.org] Sawacha Z, Guarneri G, Cristoferi G, Guiotto A, Avogaro A, Cobelli C (2009) Diabetic gait and posture abnormalities: a biomechanical investigation through three dimensional[doi.org] Damage of the autonomic nervous system is often noted: pallor of integuments, the increased perspiration, a resistant dermographism, a hypertrichosis, fragility of nails.[bigmed.info]

  • Cockayne Syndrome

    A syndrome of prenatal growth deficiency with postnatal immature bone development, developmental asymmetry, abnormal sexual development, small triangular face, cafe-au-lait[icd10data.com] The abnormal gait is due to contractures of the ankles, knees and hips as well as leg spasticity and ataxia.[symptoma.com] Ocular examination showed hazy cornea, stromal opacities, optic disc pallor, and subpolar cataract.[ijpd.in]

  • Autosomal Dominant Progressive External Ophthalmoplegia Type 6

    […] dental enamel Sparse and thin eyebrow Sparse eyelashes Hypoplasia of the zygomatic bone Cerebral hemorrhage Decreased muscle mass Arnold-Chiari malformation Melanocytic nevus Cafe-au-lait[mendelian.co] Progressive external ophthalmoplegia Obstructive sleep apnea Exertional dyspnea Generalized amyotrophy Sleep apnea Difficulty walking Apnea Dyspnea Tremor Elevated serum[mendelian.co] Children with Pearson's syndrome characteristically present in early infancy with pallor, failure to thrive, pancytopenia, diarrhea, and markedly increased serum and/or cerebrospinal[path.upmc.edu]

  • Osteitis Deformans

    au lait spots ), P recocious puberty Diagnostics Laboratory tests Alkaline phosphatase (occasionally) Normal calcium, PTH, and 1,25-dihydroxyvitamin D levels X-rays of long[amboss.com] Cortical fissure fractures arise from abnormal mechanical forces on weakened bone. They may be asymptomatic or painful.[mja.com.au] Pallor- coolness, slow capillary refill. Pulselessness-diminished or absent pulses. Increase pressure and paresthesia & paralysis.[slideplayer.com]

  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    […] sporadic disorders due to heterozygous post-zygotic mutations in genes activating signaling pathways and elevated FGF23 MAS (97) Characterized by the triad precocious puberty, cafe-au-lait[ec.bioscientifica.com] walking, and difficulty standing.[iofbonehealth.org] He had pallor, knock knees, mild anterior bowing of lower limbs and widened ankle joints (Figure 2). The systemic examination was unremarkable.[jpma.org.pk]

  • Ring Chromosome 15

    CONCLUSION: Ring chromosome 15 syndromes should be considered in a case having short stature with cafe-au-lait spots.[msjonline.org] Her father and three offspring had no abnormal features or mental retardation.[tp.amegroups.com] These symptoms are related to pancytopenia and include infections, fatigue, and hematologic manifestations such as hemorrhage of mucosal membranes, pallor, menorrhagia, ecchymoses[hoajonline.com]

  • Neurofibromatosis Type 2

    Patient one presented to ophthalmology at the age of 2 years; by 4 years, he developed what was thought to be a plexiform neurofibroma and, with more than 6 cafe au lait spots[ncbi.nlm.nih.gov] Although histologically benign, tumors are associated with significant morbidity due to multiple problems including hearing and vision loss, gait abnormalities, paralysis,[ncbi.nlm.nih.gov] It is indicated for optic nerve pallor, visual changes, proptosis, or precocious puberty.[patient.info]

  • Familial Pheochromocytoma

    Physical examination found more than six cafe-au-lait spots and BP values of 154–83 mmHg.[elsevier.es] walking without support for 20days.[lifescienceglobal.com] […] of PGL/PCC result from either Mass effect or Catecholamine hypersecretion: Sustained/paroxysmal elevations in blood pressure, headache, episodic sweating, palpitations, pallor[basicmedicalkey.com]

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