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Clinical case - Lowe syndrome
This clinical case study describes a 16-year-old boy presenting with fever, vomiting, headache, and convulsions. His past medical history is significant for bilateral cataracts, recurrent convulsions since age 10, headaches, weakness, and reduced growth. Physical exam reveals wasting, hypotonia, areflexia, and pseudophakia. Investigations show features of Fanconi syndrome including metabolic acidosis, hypokalemia, hyperchloremia, proteinuria, and glucosuria. Radiographs show reduced bone density. The constellation of findings are consistent with Lowe syndrome, a rare X-linked condition causing Fanconi syndrome, cataracts, and neurological impairment.
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Introduction of clinical case study by Dr. Tikal Kansara in the Medicine D Unit.
History of current illness includes fever, vomiting, headache, convulsions, and limb pain.
Review of past medical history indicates vision issues, recurrent convulsions, and general weakness.
16-year-old boy with acute febrile illness likely suffering from severe neurological conditions.
General examination reveals normal features but physical findings show wasting and hypotonia.
Lab results reveal anemic profile, renal function issues, and abnormal serum electrolytes.
Urine tests show presence of albumin and glucose, indicating possible renal tubular dysfunction.
Imaging results indicate chronic renal parenchymal disease and reduced bone mineral density.
Arterial blood gas analysis shows metabolic acidosis, prompting bicarbonate supplementation.
Interpretation suggests metabolic acidosis and hypokalemia leading to suspected renal tubular acidosis.
Linking metabolic acidosis, renal issues, proteinuria, and glucosuria leads to potential Fanconi Syndrome.
Consideration of Fanconi syndrome versus Lowe syndrome, highlighting unique genetic features.
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Clinical case - Lowe syndrome
- 1. Clinical Case Study By: Dr.Tikal Kansara R3 Medicine D Unit
- 2. HISTORY OF CURRENTILLNESS • Fever for 3 days – High grade, with chills & rigors • Vomiting for 3 days • Headache for 3 days – Severe, global, throbbing type • Convulsions for 2 days – GTC type, total of 3 episodes • Pain in left lower limb around hip for 2 days – After convulsions
- 3. PAST HISTORY • Dimnessof vision since age of 4 years – Progressive, improved after bilateral cataract surgery at the age of 6 years • Recurrent episodes of convulsions since the age of 10 years – 1 – 2 episodes in a few months • Headache since the age of 10 years – Intermittent episodes, each lasting a few hours to a day or two – Frequency once in 15 to 20 days
- 4. • Generalized weakness& bodyache since the age of 10 years – Mild aches to begin with; progressed to an extent that he was unable to cycle to school, so he left school • Swelling on the outer side of right thigh 1 year ago – Painful, throbbing type – Relieved after Incision and Drainage – Left a 3 x 4 cm scar on right side of thigh
- 5. INTRAUTERINE HISTORY – Nomaternal history of any major medical illness during pregnancy. ANC and Inj. TT regularly taken BIRTH HISTORY – SFD – FTND. On some oral syrups for the same DEVELOPMENTAL HISTORY – All developmental milestones are not available but he started walking at 15 – 16 months age – He was always the shortest in height in his school IMMUNISATION HISTORY – All immunizations were taken FAMILY HISTORY – Patient has no siblings – Cousin (maternal) is short statured TREATMENT HISTORY – Had cataract surgery done at age of 6 years – Patient did not seek any medical attention for his convulsions
- 6. HISTORY CONCLUSION So, atthe end of history of current illness, we have a 16 year old boy with acute onset of fever, vomiting, headache and convulsions with sequel of left lower limb pain; most likely we are dealing with a case of: • Acute Meningoencephalitis • Cerebral Malaria • Acute febrile illness reducing the seizure threshold In a background of bilateral progressive cataracts, convulsions, generalised debilitating bodyache for nearly a quarter of decade, in a short stature child (s/o – failure to thrive) without auditory symptoms or symptoms of dyspnoea, squatting episodes or urinary disturbances (hematuria, polyuria, burning micturation); we are prompted to believe him as a part of syndrome, most likely being: • Hypoparathyroidism (eg. Familial, isolated) • Galactosemia (Classical) • Down Syndrome
- 7. • Hairs –Normal • Facial Features – Symmetrical • Teeth and Palate – Normal • Extremities – Normal • Palms and Soles – Normal • Pallor present GENERAL EXAMINATION
- 8. MOTOR FUNCTIONS • Nutrition: –Wasting present; but bilaterally symmetrical • Tone: – Upper limb: • Right: Reduced • Left: Reduced – Lower limb: • Right: Reduced • Left: Not elicited • Power – 4/5 in both upper limbs & right lower limb
- 9. REFLEX RIGHT LEFT BicepsJerk - - Triceps Jerk - - Supinator Jerk - - Knee Jerk - - Ankle Jerk - -
- 10. Ophthalmology Examiation Pseudophakia withPCO (Posterior Capsular Opacity) present. Fundus not properly visualised. Vision: FC 6 – 8 Feet on bedside. Further not possible Stain: Negative Tension: Right eye: 17.3 mmHg (Normal) Left Eye: 17.3 mmHg (Normal) No abnormal eye movements Normal ocular position Intraocular pressure is normal
- 11. HISTORY & PECONCLUSION So, at the end of history & PE, we have a 16 year old boy with acute onset of fever, vomiting, headache and convulsions with sequel of left lower limb pain; with tachypnea, tachycardia without signs of meningeal irritation; In a background of bilateral progressive cataracts, convulsions, generalised debilitating bodyache for nearly a quarter of decade, in a short stature child (s/o – failure to thrive) without auditory symptoms or symptoms of dyspnoea, squatting episodes or urinary disturbances (hematuria, polyuria, burning micturation); with wasting, generalised hypotonia & areflexia we are prompted to believe him as a part of syndrome, most likely being: •Hypoparathyroidism (Familial, isolated) •Galactosemia (Classical) •Fanconi Syndrome
- 12. INVESTIGATIONS 09 / 0610 / 06 Normal Values Hemoglobin 5.1 5.30 14 – 17 gm% Total WBC 7300 / cmm 5,800 / cmm 4000 – 11000 /cmm Differentials 60 / 34 / 4 / 2 68 / 30 / 01 / 01 Platelets 232000 Adequate 150000 – 45000 / cmm Smear Hypochromia + Mild Microcytic Hypochromic RBCs Few Elliptocytes Malarial Parasite Not detected Not detected ESR 40
- 13. 09 / 0610 / 06 Normal Values Urea 113 mg/dl 115 mg/dl 14 – 40 mg/dl Creatinine 12.6 mg/dl 14.16 mg/dl M: 0.7 – 1.4 mg/dl Bilirubin (T) 0.6 mg/dl 0.1 – 0.2 mg/dl Bilirubin (D) 0.2 mg/dl 0 – 0.4 mg/dl Bilirubin (ID) 0.4 mg/dl 0.1 – 0.8 mg/dl BIOCHEMICAL INVESTIGATION
- 14. 09 / 0610 / 06 12 / 06 Normal Values S. Na 134 135 – 145 mEq/L S. K 3.2 2.7 3.5 – 5.5 mEq/L S. Calcium (T) 8.7 7.9 8.4 – 10.3 mg/dl S. Calcium (I) 0.9 1.1 – 1.35 mmol/L S. Phosphorus 5.5 2.6 – 4.5 mg/dl S. Magnesium 2.6 M: 1.8 – 2.6 mg/dl S. Chloride 114 98 – 107 mmol/L SERUM ELECTROLYTES
- 15. URINE REPORT (11/ 06 / 2016) Color Yellow Appearance Slightly turbid Reaction (pH) 6.0 Specific Gravity 1.020 Chemical Examination Urine Albumin Present (++) Urine Sugar (Qualitative) Present (+) Ketones Absent Microscopic Examination Pus cells / hpf 2 – 3 / hpf RBC / hpf 2 – 5 / hpf Epithelial cells / hpf Occassional / hpf Casts / lpf Absent Crystals Absent Yeast / Fungus Absent
- 16. Widal Test (08/ 06) S. Typhi “O” 1 : 120 S. Typhi “H” 1 : 60 10 / 06 Normal Values S. Protein 7.2 6.0 – 8.0 gm/dl S. Albumin 3.4 3.2 – 5.0 gm/dl S. Globulin 3.8 ECG Normal RBS 122 mg / dL TSH 0.62 (Normal Range: 0.27 – 4.20 µIU/ml) Viral Markers HIV Negative HbsAg Negative HCV Negative
- 17. Liver: Size: Normal Echopattern: Normal Nodilated IHBR/Focal lesion PV at porta: Normal CBD: Normal Pancreas: Size: Normal; Normal echopattern, no focal lesion Spleen: Size 8.9 cm normal. Normal echopattern, no focal lesion Right Kidney: Size 6.6 x 2.1 cm Shows mild hydronephrosis No e/o calculus noted Left Kidney: Size: 5.4 x 2.2 cm No e/o calculus/hydronephrosis noted Bilateral kidneys appear small in size with loss of cortico-medullary differenciation IMPRESSION: Changes of chronic renal parenchymal disease ULTRASOUND ABDOMEN
- 18. CEREBROSPINAL FLUID EXAMINATIONCEREBROSPINALFLUID EXAMINATION Physical Examination Amount 1 ml Colour Colourless Appearance Slightly turbid Blood Absent Biochemical Examination Protein 120 mg/dl Sugar 96 mg/dl ADA level 0.39 U/L Microscopic Examination Total Count 70 cells/ml Total RBCs Rare cells/ml Differential 75 / 25 Microscopic Examination Gram & Zn stain No organism detected
- 19. MRI BRAIN –PLAIN + CONTRAST • No significant diagnostic intracranial abnormality detected
- 20. X-Rays • X-Ray PBH: –Reduced bone density noted involving visualized bones with # neck left femur with upward displacement of shaft of left femur – Bilateral hip joint space appears preserved
- 21. • X-Ray B/Lknee (AP & Lateral): – Reduced density of visualized bones noted with dense sclerosis of the metaphysis of the bones (Tibia & Fibula) – B/L knee joint space is preserved
- 22. • CXR -PA
- 23. 13 / 0614 / 06 pH 7.30 7.15 P CO2 20.6 mmHg 26.0 mmHg P O2 64 mmHg 52 mmHg Oxygen Saturation 90.6 % 76.8 % cHCO3 9.9 mmol/L 8.6 mmol/L ARTERIAL BLOOD GAS ANALYSIS
- 24. Hospital Course 09 /06 10 / 06 11 / 06 12 / 06 13 / 06 14 / 06 14 / 06 Creatinine 12.6 14.16 9.03 5.46 3.65 3.49 3.79 HD 1 HD 2 HD 3
- 25. 13 / 0614 / 06 pH 7.30 7.15 P CO2 20.6 mmHg 26.0 mmHg P O2 64 mmHg 52 mmHg Oxygen Saturation 90.6 % 76.8 % cHCO3 9.9 mmol/L 8.6 mmol/L Underlying metabolic acidosis Bicarbonate supplementation added to prescription
- 26. Interpretation of Investigations •Anion Gap = (Na + K) – (Cl + HCO3) = (134 + 3.2) – (114 + 9.9) = 13.3 (Normal) • Hypokalemia • Hyperchloremia • Metabolic acidosis worsened in spite of HCO3 supplementation 09 / 06 10 / 06 12 / 06 13 / 06 15 / 06 S. K 3.2 2.7 3.4 3.3 13 / 06 14 / 06 pH 7.30 7.15 cHCO3 9.9 mmol/L 8.6 mmol/L
- 27. • So, wehave a hyperchoremic metabolic acidosis with hypokalemia, without evidence of renal stones (No symptoms & USG not s/o stones), which worsens in spite of bicarbonate supplementation • These features are s/o Type II (Proximal) Renal Tubular Acidosis
- 28. TYPE 1 DISTALRTA TYPE 2 PROXIMAL RTA TYPE 4 RTA Defect Reduced H+ excretion in distal tubule Impaired HCO3 reabsorption in proximal tubule Impaired cation exchange in distal tubule Hyperchloremic Normal anion gap metabolic acidosis Yes Yes Yes Minimum urine pH > 5.5 (always) < 5.5 (ill – defined) < 5.5 Plasma HCO3 < 15 Usually >15 Usually > 15 Plasma K Low-normal Low-normal High (always) Renal Stones Almost always present No No Causes Hereditary - Band 3 mutation (association with sensorineural deafness) Aquired – Autoimmune (eg Sjogren), cirrhosis, sickle cell anaemia, renal transplantation Hereditary – Cystinosis, Wilson dz, galactosemia, fructose intolerance, etc Aquired – Amyloidosis, Multiple Myeloma, Paroxysmal Nocturnal Hemoglobinuria, HAART Disorders of renal interstitum and tubules with GFR > 20 mL/min
- 29. • In additionto this, the patient has features of reduced bone mineral density on X-Rays (Osteomalacia >> Renal Osteodystrophy) – With pathological # following convulsions (a trivial trauma) • Proteinuria • Glucosuria • Failure to thrive & anaemia
- 30. • So, combiningthe two ,we have – Hyperchloremic – Metabolic acidosis – Hypokalemia – Radiological features of reduced bone density severe enoughfor pathological # of long bone (left femur) (s/o long standing loss of calcium & phosphorus in urine) – Proteinuria – Glucosuria – Failure to thrive • These features comprise - Fanconi Syndrome
- 31. Favours Fanconi Syndromein our patient Against Fanconi Syndrome in our patient Metabolic Acidosis <<None>> Hypokalemia <<None>> Hyperchloremia <<None>> Proteinuria (Mild) as no edema in the patient during the last decade & normal serum albumin <<None>> Glucosuria <<None>> Failure to thrive <<None>> After advanced medicorenal disease sets in, amino acids may not be found in urine. But wasting was present, s/o reduced muscle mass Did not perform urinary loss of amino acids Already an advanced medicorenal disease with shrunken kidney has set in. Features on X-Ray & anthropometry are have features of chronically reduced phosphorus & calcium Hyperphosphatemia Did not demonstrate phosphaturia
- 32. Fanconi Syndrome • Inherited– – Cystinosis, Wilson disease, Lowe Syndrome, Galactosemia, Glycogen storage disease, Hereditary Fructose Intolerance • Aquired – – Outdated Tetracyclines, Tenofovir & didanosine, Multiple Myeloma and monoclonal gammopathy
- 33. Combining everything available!!! • Fanconi Syndrome • Bilateral cataracts (operated); with resurrgence of posterior capsular opacity • Long history of convulsions (without any structural lesions in brain) & hypotonia with areflexia on examination
- 34. Lowe Syndrome • X-linkedrecessive syndrome • Incidence 1:200,000 to 1:500,000 • Congenital cataracts, hypotonia and areflexia, proximal tubular acidosis, aminoaciduria, phosphaturia and low molecular weight proteinuria with intellectual disability • Diagnosed by inositol polyphosphate 5- phosphatase enzyme activity in cultured skin fibroblasts and by OCRL1 gene study