Dr wael abdel kreem case

1. Case presentation
by
WAELABDEL KAREEM
ass. Lecturer of internal medicine and
nephrology
ALAZHAR UNIVERSITY
8 – 10 - 2016

2. Personal history
A female patient, 27 year old, House wife, from Giza, married 5
months ago, Rt. Handed, with no special habits of medical
importance with irregular menstruation.
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3. Complaint
Recurrent painful spasms affecting both hands and feet
associated with Bilateral diminution vision of 13 years duration .
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4. History of present illness
The condition has started 13 years ago by, gradual onset and
progressive course with partial remission, of headache, not experienced
previously by the patient, pulsating in character, diffuse allover the
head, moderate to sever in intensity, present most of the day,
associated with photophobia, phonophobia, sometimes nausea without
vomiting.
Headache was not related to posture, poorly responsive to analgesics
and sometimes awakened the patient from sleep.
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5. 5
No history suggesting neck pain or stiffness at that time.
No history suggesting systemic symptoms such as fever, night
sweating or weight loss.
The condition was associated with recurrent painful spasms affecting
both hands and both feet, lasting for minutes and spontaneously
disappear, associated with difficulty in opening the mouth and peri-oral
numbness.

6. History of present illness
About 2 weeks later, the patient developed recurrent attacks of
transient bilateral loss of vision, lasting for 30-60 seconds, about 2-3
times daily, not related to posture with no associated vertigo or other
neurological manifestations.
About 2 weeks later, the patient developed bilateral diminution of
vision completed within about one week up to no perception of light,
associated with painful eye movement.
No history of associated eye redness, swelling or squint.
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7. The patient sought medical advice and was admitted to Kasr El Ainy
hospital, received treatment in the form of ??????????????????? with
marked improvement of vision in the right eye (up to 6/6), but the left
eye remained with only perception of light, and marked improvement
of the headache.
History of present illness
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8. 3 years later, the patient developed diminution of vision in right
eye completed within few days, up to recognition of persons only at
a distance of one meter or less, with painful eye movement and
impaired color vision.
The patient was readmitted again and received ttt with marked
improvement of the vision on the right eye (6/6).
3 years later, the patient developed a similar attack of diminution
of vision in right eye with marked improvement on steroid therapy.
History of present illness
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9. 9
About 6 years later (1 year ago), the patient complained again of
diminution of vision in right eye and treated with good
improvement.
Within the last 8 months, The patient complained of weakness
affecting both upper and lower limbs more or less to the same extent,
proximal more than distal, with more or less normotonia, with no
wasting or fasciculations, affecting some daily activities .
History of paraesthesia affecting both hands and feet.

10. 10
4 months ago, the patient developed two attacks of tonic-clonic fits,
with 48 hours apart, (with aura in the form of light headedness and
post-ictal confusion lasting for about one hour).

11. 11
The patient complained of diminution of vision in the Rt. eye
affecting small parts of the visual field with difficulty seeing at night
or in dim light, diagnosed as cataract and operated with good
improvement about 6 ms ago.

12. 12
The patient claimed no sensory level or other sensory affection.
no history of vertigo, or diplopia.
No symptoms suggesting other cranial nerves affection
There is no history of sphincter affection
No symptoms suggesting cerebellar affection
History of bone pain and tenderness.
History of excessive loos of hair not related to drugs.

13. No history of chronic diarrhea, chronic cough, excisional dyspnea or
other system affection.
No history of oral or genital ulceration , arthralgia or skin rash
No history of DVT .
History of present illness
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14. Past history
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No history blood transfusion.
No history of chronic medical illness (DM)

15. Family history
No family history of similar condition.
No history of consanguinity.
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16. Case formulation
A young female patient , presented 13 years ago by gradual onset,
progressive course with partial remission of:
 Recurrent attacks of carpopedal spasms (Chronic hypocalcemia)
 Recurrent bilateral diminution of vision.
 Bilateral symmetrical weakness of both upper and lower limbs
proximal more than distal.
 Glove and stock paresthesia.
 Two attacks of tonic-clonic fits.
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17. What is the provisional
diagnosis from
history ??????
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18. General examination
BL.P. : 110/80
pulse : regular , 70 beat per minute, average volume equal on both
sides.
RR : 18 cycle per minute.
Temp. : 37 ◦C. by fever chart .
No pallor, jaundice or cyanosis.
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19. General examination
Head and Neck: No palpable lymph node, normal thyroid.
Chest:
fair air entry , normal vesicular breathing with no adventitial
sound .
Heart:
normal S1 & S2 with no murmur.
Abdomen:
Lax abdomen , with no detectable ascites or organomegaly.
No suprapubic dullness.
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20. Neurological Examination
The patient is fully conscious, attentive, oriented to time, place and
persons with average mood and intact memory for recent and remote and
she is cooperative.
Speech: intact
Cranial nerves:
Optic:
visual acuity: left  HM, right 6/36
Fundus : bilateral optic atrophy
Other cranial nerves………….. intact
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21. Neurological Examination
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Motor
muscle state :
no wasting, fasciculations or trophic changes .
Tone :
UL : normotonia at wrist, elbow
LL normotonia at ankle, knee, hip
Power: intact

22. Reflexes:
Superficial:
Abdominal: intact
Plantar: equivocal bilateral
DEEP REFLEXES: hyporeflexia in both UL &LL
Neurological Examination
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23. Sensory
stock and glove hypoesthesia
COORDINATION: intact
Positive chevostik sign
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Neurological Examination

24. WHAT IS THE RECOMMENDED
INVESTIGATIONS???
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25. Lab. summary
 ROUTINE LAB.
CBC ……..Hb 11.2 gm/dl, wbc 5200/cmm, plt.170 0000
KFT s.creat. 1.1mg/dl
ABG …….NORMAL
URINE ANALYSIS………………….NAD
LIVER F T NAD ,S albumin 4 g/dl
Immunology screen ………ANA ,anti ds DNA, ANCA ………..NEGATIVE
CSF EXAM …………….NAD
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26.  S CACIUM (total, 6.2mg/dl, ionized ca ………low)
 s. ph 4.2mg/dl
 PTH, 34pg/ml (16-75pg/ml)
Mg ,Na 139mmol/l ,k 3.5 mmol/l
 24 hr urinary ca excretion……………… high normal
 Vit. D level normal
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27. Imaging studies
 MRI BRAIN……………normal
 MRI CERVICAL SPINE………………normal
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28. DD
 MS&ADEM
 SLE&vasculitis
 NMO
 CHRONIC HYPOCALCEMIA (CAUSES)
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29. Major causes of hypocalcemia
 Loss of calcium from the circulation
(Hyperphosphatemia &Alkalosis)
 Hypoparathyroidism
(genetic,autoimmune,surgery,infection)
 Hypovitaminosis D
 Hypomagnesemia
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30. Autosomal dominant hypocalcemia
(familial hypercalciuric hypocalcemia)
 Autosomal dominant hypocalcemia is commonly caused by an
activating mutation of the CaSR gene.
 Most reported mutations occur in the extracellular domain of the
CaSR, although some occur in the transmembrane domain.
 Interestingly, a homozygous member of the family had a similar
phenotype to heterozygous individuals, implying that one
mutated allele is enough to cause a maximal shift of calcium
sensitivity .
 Sporadic de novo mutations in the CaSR have also been
identified. Such patients are often labeled as having idiopathic
hypoparathyroidism, unless their CaSR gene is subjected to
mutational analysis.
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31. ADH
The biochemical features are as follows:
 Serum calcium concentration usually in the range of 6 to 8 mg/dL (1.5
to 2.0 mmol/L), but as low as 5 mg/dL in occasional families
 Normal (or only slightly low) serum PTH concentrations
 High or high normal urinary calcium excretion rather than the expected
low excretion
 Recurrent nephrolithiasis and nephrocalcinosis, particularly during
treatment with vitamin D and calcium supplementation
 No previous normal serum calcium values
 Low serum magnesium concentration (in some)
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32. Clinical manifestations of hypocalcemia
 Acute
Neuromuscular
Irritability (Tetany), Paresthesias (peri-oral, extremities), Muscle
twitching, Carpopedal spasm ,Trousseau's sign, Chvostek's sign,
Seizures Laryngospasm, Bronchospasm
Cardiac
Prolonged QT interval, Hypotension, Heart failure, Arrhythmia
EYE: Papilledema
 Chronic
Ectopic calcification (basal ganglia), Extrapyramidal signs (Parkinsonism
)Dementia, Subcapsular cataracts, Abnormal dentition AND optic
neuritis &atrophy.
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