Gross Anatomy and Histology of Tongue by Dr. Rabia Inam Gandapore.pptx
A Case of Pycnodysostosis
1. Rare case of anAemia Dr.jayakumars.a. Prof.dr.A.gowrishankar’s unit
2. Miss.Ishwarya ,15 yrs old came with yellowish discoloration of urine -6 months abdominal pain -6 months
3. HOPI: yellowish discoloration of urine ,was intermittently present lasting for about 20 days & decreasing for the past 6 months ; abdominal pain – left hypochondrial pain ;dull vague pain not radiating ;no relation to food intake ; no itching /skin discoloration /bleeding manifestations no fever no abdominal distension /pedal edema /chest pain no altered bowel habits
4. PAST HISTORY: history of frequent fractures at 7 yrs of age – fracture of both bone legs and fracture femur after a trivial injury , with surgery for the same ; blood transfusion was done during the procedure as she was found to be anemic PERSONAL HISTORY : takes mixed diet ; attained menarche 3 yrs back ; regular menstrual cycles ; TREATMENT HISTORY : took native treatment for the same complaints 3 months back ; FAMILY HISTORY : born of 3rd degree consanguineous marriage ;
5. O/E: conscious PULSE: 88/mt oriented BP:110/70mmhg afebrile height :130 cm short stature weight : 40kg dysmorphicfaciesupper segment :59 cm ill formed dentition head circumference:54cm short stubby fingers and toes deformed nails mild icterus
10. CVS: S1, S2 heard normally ; no murmurs RS: normal vesicular breath sounds heard ABD: spleen palpable 4 cm below the left costal margin CNS: no focal neurologic deficit
11. Problems : short stature frequent fractures with trivial trauma icterus splenomegaly
12. INVESTIGATIONS Hb- 9.2 g/dl TC-6500 DC- P64 L 34 E2 PCV -27 % ESR -12/24 Platelet – 2,00,000 RBS-100 mg Urea -28 Creatinine -0.8 Peripheral smear : normocytic /hypochromic RBCs; few spherocytes Present;Anisopoikilocytes ;helmet cells; tear drop cells; Elliptocytes; Polychromasia;Normoblasts; ;shift to left ;Platelet clumps
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14. Calcium 9.4 mg/dl ( 8.6 – 10.2 mg /dl ) Phosphorus 4.8 mg/dl (4.0- 7.0 mg/dl) Parathormone level : 65 pg/ ml ( 15 – 65 pg /ml ) Alk.phosphatase 89.0 IU/l DCT: negative LDH : 262 u/l (115 – 221 u/ l ) Reticulocyte count : 2.5 % Hemoglobin electrophoresis : normal Red cell osmotic fragility: normal Bone marrow biopsy: sclerotic bone fragments present marrow couldn’t be harvested
15. Dense skull bones ;wide open sutures ;hypoplasticsinuses;obtuse angle of mandible
25. PYKNODYSOSTOSIS Term coined in 1962- Maroteux & Lamy; Autosomal recessive ; Mutation in gene that encodes cathepsin K a lysosmal metalloproteinase ; Osteoclasts are present normally ,but functionally defective ; Clinical features : short stature , kyphoscoliosis , high arched or deformed palate ,proptosis ,blue sclera , dysmorphicfacies –small face & chin;fronto occipital prominence;beaked nose;large cranium ;obtuse mandibular angle ; small square hands with hypoplastic nails ; long bones are normally shaped persistently open fontanelles ;hypoplasia of the sinuses, lateral end of clavicles,terminal phalanges ; persistent deciduous teeth; sclerosis of base of skull ;
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27. Pyknodysostosis is a rare skeletal dysplasia ; Incidence is 1: 100,000; Associated anemia in pycnodysostosis is very rare ; only few case reports are there ; The reason for presenting this case..
28. CLINICAL PEDIATRICS August 1986 vol. 25no. 8 416-418doi: 10.1177/000992288602500809 Pycnodysostosis with Visceral Manifestation and Rickets B.R. Santhanakrishnan Department of Pediatrics, Institute of Child Health and Hospital for Children, Egmore, Madras 600 008, India S. Panneerselvam Department of Pediatrics, Institute of Child Health and Hospital for Children, Egmore, Madras 600 008, India S. Ramesh Department of Pediatrics, Institute of Child Health and Hospital for Children, Egmore, Madras 600 008, India M. Panchatcharam Department of Pediatrics, Institute of Child Health and Hospital for Children, Egmore, Madras 600 008, India Abstract Pycnodysostosis is a rare bone disease. Visceral manifestations associated with anemia and/or rickets have been reported in pycnodysostosis. Five children with typical findings of pycnodysostosis with hepatosplenomegaly, anemia with rickets, one with visceromegaly and anemia, and another with rickets alone are reported here. These findings strongly suggest that extramedullaryerythropoiesis does occur in pycnodysostosis.
29. Indian J Pediatr. 1993 Sep-Oct;60(5):696-8. Pycnodysostosis with anemia. Cetinkaya F, Aydin M, Selcuk M. Source OndokuzMayis University, School of Medicine, Department of Pediatrics, Samsun Turkiye. PMID: 8157343 [PubMed - indexed for MEDLINE]
30. N Y State J Med. 1971 Oct 15;71(20):2419-21. Pycnodysostosis with splenomegaly and anemia. Norman CH Jr, Dubowy J. PMID: 5286691 [PubMed - indexed for MEDLINE]
31. Postgrad Med J 2002;78:107 doi:10.1136/pmj.78.916.107 The child reported here had classical clinical and radiological findings of pycnodysostosisalong with atypical features like splenohepatomegaly, anaemia, and thrombocytopenia. These atypical features are common in osteopetrosistarda. The boy also had bilateral papilloedema, which has not been reported earlier in association with pycnodysostosis. Thus our case is a link between pycnodysostosis and osteopetrosistarda indicating that these two disorders are related to each other in a manner more complex than the morphological similarity of increased bone density. Our case is an example of phenotypic heterogeneity in metabolic diseases.
32. East and Central African Journal of SurgeryAssociation of Surgeons of East Africa and College of Surgeons of East Central and Southern AfricaISSN: 1024-297X EISSN: 2073-9990 Vol. 14, Num. 1, 2009, pp. 98-102East and Central African Journal of Surgery, Vol. 14, No. 1, March-April 2009, pp. 98-102 Pycnodysostosis with Epilepsy in a Malawian patient: A Case Report B. L. Wamisho1, J. Bates2 1Addis Ababa University, Department of Orthopedics, Addis Ababa, ETHIOPIA, 2College of Medicine, Blantyre, Malawi, Correspondence to: Dr. Biruk L Wamisho, E-mail: lbiruklw@yahoo.com Code Number: js09017
